1-31414816-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414816
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414816
    reference: chr 1
allele count: 3
allele frequency: 2.477864411259416e-5
allele num: 121072
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.416+29G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.182G>A
  hgvsp: ENSP00000434096.1:p.Arg61Gln
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2929+29G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.3123+29G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2388+29G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2688+29G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2937+29G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.3114+29G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2254+29G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.3120+29G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-697G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3228+29G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.3042+29G>A
  variant of: http://identifiers.org/hgnc/14957
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17004
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8525
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20503
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg61Gln
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

1-31414817-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414817
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414817
    reference: chr 1
allele count: 2
allele frequency: 1.651418568550385e-5
allele num: 121108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2929+28C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.3042+28C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.3123+28C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2937+28C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3228+28C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.181C>T
  hgvsp: ENSP00000434096.1:p.Arg61Ter
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.416+28C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.3114+28C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2388+28C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2688+28C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-698C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.3120+28C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2254+28C>T
  variant of: http://identifiers.org/hgnc/14957
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20520
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1550
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17010
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg61Ter
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD

1-31414823-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414823
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414823
    reference: chr 1
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.416+22G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.3123+22G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2688+22G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3228+22G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.3042+22G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-704G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.3114+22G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.175G>A
  hgvsp: ENSP00000434096.1:p.Glu59Lys
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2388+22G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2929+22G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2254+22G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.3120+22G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2937+22G>A
  variant of: http://identifiers.org/hgnc/14957
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7078
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8575
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20535
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1551
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Glu59Lys
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/1-31414835-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414835
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414835
    reference: chr 1
allele count: 1
allele frequency: 8.245790523937529e-6
allele num: 121274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2254+10T>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.3114+10T>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.163T>G
  hgvsp: ENSP00000434096.1:p.Leu55Val
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.416+10T>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2388+10T>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.3042+10T>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2688+10T>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3228+10T>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2929+10T>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2937+10T>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.3123+10T>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.3120+10T>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-716T>G
  variant of: http://identifiers.org/hgnc/14957
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8581
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17010
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20559
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu55Val
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: A
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

1-31414837-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414837
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414837
    reference: chr 1
allele count: 115
allele frequency: 9.482502721065998e-4
allele num: 121276
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.3114+8A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2388+8A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2937+8A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2688+8A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.3123+8A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.3120+8A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2929+8A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.3042+8A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.161A>T
  hgvsp: ENSP00000434096.1:p.Glu54Val
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3228+8A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.416+8A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-718A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2254+8A>T
  variant of: http://identifiers.org/hgnc/14957
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1546
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16994
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 6.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: p.Glu54Val
num of homozygotes: 1
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-31414838-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414838
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414838
    reference: chr 1
allele count: 115
allele frequency: 9.482346344761622e-4
allele num: 121278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2254+7G>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2688+7G>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.3114+7G>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2937+7G>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.3123+7G>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2388+7G>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.3042+7G>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.416+7G>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2929+7G>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3228+7G>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.160G>T
  hgvsp: ENSP00000434096.1:p.Glu54Ter
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-719G>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.3120+7G>T
  variant of: http://identifiers.org/hgnc/14957
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16995
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7061
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20548
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8572
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 9.75e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
hgvs: p.Glu54Ter
num of homozygotes: 1
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

1-31414853-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414853
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414853
    reference: chr 1
allele count: 1
allele frequency: 8.244159013339049e-6
allele num: 121298
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.408C>T
  hgvsp: ENSP00000433373.1:p.Leu137Phe
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3220C>T
  hgvsp: ENSP00000362846.4:p.Leu1074Phe
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.3034C>T
  hgvsp: ENSP00000401777.2:p.Leu1012Phe
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2929C>T
  hgvsp: ENSP00000362847.2:p.Leu977Phe
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.3106C>T
  hgvsp: ENSP00000257075.5:p.Leu1036Phe
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2680C>T
  hgvsp: ENSP00000399440.2:p.Leu894Phe
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.3112C>T
  hgvsp: ENSP00000391723.2:p.Leu1038Phe
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2921C>T
  hgvsp: ENSP00000435825.1:p.Leu975Phe
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2246C>T
  hgvsp: ENSP00000433850.1:p.Leu750Phe
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.3115C>T
  hgvsp: ENSP00000362852.3:p.Leu1039Phe
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2380C>T
  hgvsp: ENSP00000400141.2:p.Leu794Phe
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.145C>T
  hgvsp: ENSP00000434096.1:p.Leu49Phe
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-734C>T
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8573
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1038Phe
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

1-31414859-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414859
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414859
    reference: chr 1
allele count: 1
allele frequency: 8.244023083264634e-6
allele num: 121300
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-740G>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.3106G>C
  hgvsp: ENSP00000391723.2:p.Glu1036Gln
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2374G>C
  hgvsp: ENSP00000400141.2:p.Glu792Gln
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2923G>C
  hgvsp: ENSP00000362847.2:p.Glu975Gln
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3214G>C
  hgvsp: ENSP00000362846.4:p.Glu1072Gln
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2240G>C
  hgvsp: ENSP00000433850.1:p.Glu748Gln
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.3028G>C
  hgvsp: ENSP00000401777.2:p.Glu1010Gln
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.3109G>C
  hgvsp: ENSP00000362852.3:p.Glu1037Gln
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.402G>C
  hgvsp: ENSP00000433373.1:p.Glu135Gln
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2674G>C
  hgvsp: ENSP00000399440.2:p.Glu892Gln
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.3100G>C
  hgvsp: ENSP00000257075.5:p.Glu1034Gln
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2915G>C
  hgvsp: ENSP00000435825.1:p.Glu973Gln
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.139G>C
  hgvsp: ENSP00000434096.1:p.Glu47Gln
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2896
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17005
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1036Gln
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

1-31414862-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414862
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414862
    reference: chr 1
allele count: 1
allele frequency: 8.244294947896055e-6
allele num: 121296
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2912A>T
  hgvsp: ENSP00000435825.1:p.Thr972Ser
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2920A>T
  hgvsp: ENSP00000362847.2:p.Thr974Ser
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.136A>T
  hgvsp: ENSP00000434096.1:p.Thr46Ser
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-743A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2237A>T
  hgvsp: ENSP00000433850.1:p.Thr747Ser
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.399A>T
  hgvsp: ENSP00000433373.1:p.Thr134Ser
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.3106A>T
  hgvsp: ENSP00000362852.3:p.Thr1036Ser
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.3097A>T
  hgvsp: ENSP00000257075.5:p.Thr1033Ser
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2371A>T
  hgvsp: ENSP00000400141.2:p.Thr791Ser
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3211A>T
  hgvsp: ENSP00000362846.4:p.Thr1071Ser
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.3025A>T
  hgvsp: ENSP00000401777.2:p.Thr1009Ser
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.3103A>T
  hgvsp: ENSP00000391723.2:p.Thr1035Ser
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2671A>T
  hgvsp: ENSP00000399440.2:p.Thr891Ser
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 844
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8567
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2895
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1035Ser
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/1-31414875-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414875
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414875
    reference: chr 1
allele count: 1
allele frequency: 8.243887157672586e-6
allele num: 121302
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2358G>T
  hgvsp: ENSP00000400141.2:p.Glu786Asp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2907G>T
  hgvsp: ENSP00000362847.2:p.Glu969Asp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2658G>T
  hgvsp: ENSP00000399440.2:p.Glu886Asp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2224G>T
  hgvsp: ENSP00000433850.1:p.Glu742Asp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.123G>T
  hgvsp: ENSP00000434096.1:p.Glu41Asp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.386G>T
  hgvsp: ENSP00000433373.1:p.Glu129Asp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.3090G>T
  hgvsp: ENSP00000391723.2:p.Glu1030Asp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.3084G>T
  hgvsp: ENSP00000257075.5:p.Glu1028Asp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.3093G>T
  hgvsp: ENSP00000362852.3:p.Glu1031Asp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2899G>T
  hgvsp: ENSP00000435825.1:p.Glu967Asp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.3012G>T
  hgvsp: ENSP00000401777.2:p.Glu1004Asp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3198G>T
  hgvsp: ENSP00000362846.4:p.Glu1066Asp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-756G>T
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20572
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1556
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8559
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Glu1030Asp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

1-31414887-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414887
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414887
    reference: chr 1
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3186T>C
  hgvsp: ENST00000373741.4:c.3186T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.3072T>C
  hgvsp: ENST00000257075.5:c.3072T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.3078T>C
  hgvsp: ENST00000426105.2:c.3078T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.374T>C
  hgvsp: ENST00000525997.1:c.374T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.3000T>C
  hgvsp: ENST00000440538.2:c.3000T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2895T>C
  hgvsp: ENST00000373742.2:c.2895T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.111T>C
  hgvsp: ENST00000530669.1:c.111T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2212T>C
  hgvsp: ENST00000498419.1:c.2212T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2887T>C
  hgvsp: ENST00000525843.1:c.2887T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2346T>C
  hgvsp: ENST00000424085.2:c.2346T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.3081T>C
  hgvsp: ENST00000373747.3:c.3081T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2646T>C
  hgvsp: ENST00000423018.2:c.2646T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-768T>C
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1026Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

1-31414889-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414889
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414889
    reference: chr 1
allele count: 1
allele frequency: 8.246198502490351e-6
allele num: 121268
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2893C>T
  hgvsp: ENSP00000362847.2:p.Pro965Ser
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2210C>T
  hgvsp: ENSP00000433850.1:p.Pro738Ser
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-770C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.3070C>T
  hgvsp: ENSP00000257075.5:p.Pro1024Ser
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.372C>T
  hgvsp: ENSP00000433373.1:p.Pro125Ser
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2344C>T
  hgvsp: ENSP00000400141.2:p.Pro782Ser
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.109C>T
  hgvsp: ENSP00000434096.1:p.Pro37Ser
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3184C>T
  hgvsp: ENSP00000362846.4:p.Pro1062Ser
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2644C>T
  hgvsp: ENSP00000399440.2:p.Pro882Ser
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2885C>T
  hgvsp: ENSP00000435825.1:p.Pro963Ser
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.3076C>T
  hgvsp: ENSP00000391723.2:p.Pro1026Ser
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2998C>T
  hgvsp: ENSP00000401777.2:p.Pro1000Ser
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.3079C>T
  hgvsp: ENSP00000362852.3:p.Pro1027Ser
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17014
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1026Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

1-31414893-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414893
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414893
    reference: chr 1
allele count: 2
allele frequency: 1.649294102124291e-5
allele num: 121264
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2340A>T
  hgvsp: ENST00000424085.2:c.2340A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.3075A>T
  hgvsp: ENST00000373747.3:c.3075A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-774A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2206A>T
  hgvsp: ENST00000498419.1:c.2206A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.368A>T
  hgvsp: ENST00000525997.1:c.368A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2994A>T
  hgvsp: ENST00000440538.2:c.2994A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2640A>T
  hgvsp: ENST00000423018.2:c.2640A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.105A>T
  hgvsp: ENST00000530669.1:c.105A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.3066A>T
  hgvsp: ENST00000257075.5:c.3066A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2881A>T
  hgvsp: ENST00000525843.1:c.2881A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2889A>T
  hgvsp: ENST00000373742.2:c.2889A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3180A>T
  hgvsp: ENST00000373741.4:c.3180A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.3072A>T
  hgvsp: ENST00000426105.2:c.3072A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 842
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1024Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

1-31414893-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414893
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414893
    reference: chr 1
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-774A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.105A>G
  hgvsp: ENST00000530669.1:c.105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.3075A>G
  hgvsp: ENST00000373747.3:c.3075A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.3066A>G
  hgvsp: ENST00000257075.5:c.3066A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2994A>G
  hgvsp: ENST00000440538.2:c.2994A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2889A>G
  hgvsp: ENST00000373742.2:c.2889A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2640A>G
  hgvsp: ENST00000423018.2:c.2640A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2340A>G
  hgvsp: ENST00000424085.2:c.2340A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.3072A>G
  hgvsp: ENST00000426105.2:c.3072A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.368A>G
  hgvsp: ENST00000525997.1:c.368A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3180A>G
  hgvsp: ENST00000373741.4:c.3180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2206A>G
  hgvsp: ENST00000498419.1:c.2206A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2881A>G
  hgvsp: ENST00000525843.1:c.2881A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17011
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Thr1024Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

1-31414896-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414896
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414896
    reference: chr 1
allele count: 1
allele frequency: 8.247422680412371e-6
allele num: 121250
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.3072G>A
  hgvsp: ENST00000373747.3:c.3072G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2991G>A
  hgvsp: ENST00000440538.2:c.2991G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2337G>A
  hgvsp: ENST00000424085.2:c.2337G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2878G>A
  hgvsp: ENST00000525843.1:c.2878G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.3063G>A
  hgvsp: ENST00000257075.5:c.3063G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.102G>A
  hgvsp: ENST00000530669.1:c.102G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2637G>A
  hgvsp: ENST00000423018.2:c.2637G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2203G>A
  hgvsp: ENST00000498419.1:c.2203G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-777G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3177G>A
  hgvsp: ENST00000373741.4:c.3177G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2886G>A
  hgvsp: ENST00000373742.2:c.2886G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.365G>A
  hgvsp: ENST00000525997.1:c.365G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.3069G>A
  hgvsp: ENST00000426105.2:c.3069G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20574
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gln1023Gln
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ

1-31414899-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414899
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414899
    reference: chr 1
allele count: 3
allele frequency: 2.474308430793593e-5
allele num: 121246
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.362C>A
  hgvsp: ENSP00000433373.1:p.Asp121Glu
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.3066C>A
  hgvsp: ENSP00000391723.2:p.Asp1022Glu
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2200C>A
  hgvsp: ENSP00000433850.1:p.Asp734Glu
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2875C>A
  hgvsp: ENSP00000435825.1:p.Asp959Glu
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2883C>A
  hgvsp: ENSP00000362847.2:p.Asp961Glu
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.99C>A
  hgvsp: ENSP00000434096.1:p.Asp33Glu
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2988C>A
  hgvsp: ENSP00000401777.2:p.Asp996Glu
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3174C>A
  hgvsp: ENSP00000362846.4:p.Asp1058Glu
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.3060C>A
  hgvsp: ENSP00000257075.5:p.Asp1020Glu
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-780C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2334C>A
  hgvsp: ENSP00000400141.2:p.Asp778Glu
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.3069C>A
  hgvsp: ENSP00000362852.3:p.Asp1023Glu
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2634C>A
  hgvsp: ENSP00000399440.2:p.Asp878Glu
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20567
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1022Glu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

1-31414901-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414901
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414901
    reference: chr 1
allele count: 1
allele frequency: 8.248783304462591e-6
allele num: 121230
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2873G>C
  hgvsp: ENSP00000435825.1:p.Asp959His
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2332G>C
  hgvsp: ENSP00000400141.2:p.Asp778His
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.3067G>C
  hgvsp: ENSP00000362852.3:p.Asp1023His
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2198G>C
  hgvsp: ENSP00000433850.1:p.Asp734His
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3172G>C
  hgvsp: ENSP00000362846.4:p.Asp1058His
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2632G>C
  hgvsp: ENSP00000399440.2:p.Asp878His
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.3058G>C
  hgvsp: ENSP00000257075.5:p.Asp1020His
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.97G>C
  hgvsp: ENSP00000434096.1:p.Asp33His
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2881G>C
  hgvsp: ENSP00000362847.2:p.Asp961His
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-782G>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.360G>C
  hgvsp: ENSP00000433373.1:p.Asp121His
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.3064G>C
  hgvsp: ENSP00000391723.2:p.Asp1022His
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2986G>C
  hgvsp: ENSP00000401777.2:p.Asp996His
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17015
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20562
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7076
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Asp1022His
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum

1-31414902-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414902
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414902
    reference: chr 1
allele count: 8
allele frequency: 6.598808914990844e-5
allele num: 121234
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.359T>C
  hgvsp: ENST00000525997.1:c.359T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2872T>C
  hgvsp: ENST00000525843.1:c.2872T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3171T>C
  hgvsp: ENST00000373741.4:c.3171T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-783T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2331T>C
  hgvsp: ENST00000424085.2:c.2331T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2880T>C
  hgvsp: ENST00000373742.2:c.2880T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.96T>C
  hgvsp: ENST00000530669.1:c.96T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2631T>C
  hgvsp: ENST00000423018.2:c.2631T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.3066T>C
  hgvsp: ENST00000373747.3:c.3066T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2197T>C
  hgvsp: ENST00000498419.1:c.2197T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.3063T>C
  hgvsp: ENST00000426105.2:c.3063T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2985T>C
  hgvsp: ENST00000440538.2:c.2985T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.3057T>C
  hgvsp: ENST00000257075.5:c.3057T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20560
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 841
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8464
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17013
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1021Pro
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

1-31414904-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414904
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414904
    reference: chr 1
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2870C>G
  hgvsp: ENSP00000435825.1:p.Pro958Ala
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.3055C>G
  hgvsp: ENSP00000257075.5:p.Pro1019Ala
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.3064C>G
  hgvsp: ENSP00000362852.3:p.Pro1022Ala
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2983C>G
  hgvsp: ENSP00000401777.2:p.Pro995Ala
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.3061C>G
  hgvsp: ENSP00000391723.2:p.Pro1021Ala
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-785C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2195C>G
  hgvsp: ENSP00000433850.1:p.Pro733Ala
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.94C>G
  hgvsp: ENSP00000434096.1:p.Pro32Ala
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2629C>G
  hgvsp: ENSP00000399440.2:p.Pro877Ala
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2878C>G
  hgvsp: ENSP00000362847.2:p.Pro960Ala
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2329C>G
  hgvsp: ENSP00000400141.2:p.Pro777Ala
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.357C>G
  hgvsp: ENSP00000433373.1:p.Pro120Ala
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3169C>G
  hgvsp: ENSP00000362846.4:p.Pro1057Ala
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17013
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2894
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8460
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20560
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Pro1021Ala
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD

1-31414905-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414905
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414905
    reference: chr 1
allele count: 2
allele frequency: 1.649947201689546e-5
allele num: 121216
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2982C>G
  hgvsp: ENST00000440538.2:c.2982C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.3060C>G
  hgvsp: ENST00000426105.2:c.3060C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2877C>G
  hgvsp: ENST00000373742.2:c.2877C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.3063C>G
  hgvsp: ENST00000373747.3:c.3063C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2869C>G
  hgvsp: ENST00000525843.1:c.2869C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.93C>G
  hgvsp: ENST00000530669.1:c.93C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2328C>G
  hgvsp: ENST00000424085.2:c.2328C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.3054C>G
  hgvsp: ENST00000257075.5:c.3054C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3168C>G
  hgvsp: ENST00000373741.4:c.3168C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-786C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2628C>G
  hgvsp: ENST00000423018.2:c.2628C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2194C>G
  hgvsp: ENST00000498419.1:c.2194C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.356C>G
  hgvsp: ENST00000525997.1:c.356C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17016
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1020Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS

1-31414907-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414907
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414907
    reference: chr 1
allele count: 2
allele frequency: 1.650056101907465e-5
allele num: 121208
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2326C>G
  hgvsp: ENSP00000400141.2:p.Leu776Val
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2867C>G
  hgvsp: ENSP00000435825.1:p.Leu957Val
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.354C>G
  hgvsp: ENSP00000433373.1:p.Leu119Val
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3166C>G
  hgvsp: ENSP00000362846.4:p.Leu1056Val
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2875C>G
  hgvsp: ENSP00000362847.2:p.Leu959Val
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2980C>G
  hgvsp: ENSP00000401777.2:p.Leu994Val
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.3052C>G
  hgvsp: ENSP00000257075.5:p.Leu1018Val
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2626C>G
  hgvsp: ENSP00000399440.2:p.Leu876Val
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2192C>G
  hgvsp: ENSP00000433850.1:p.Leu732Val
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.3058C>G
  hgvsp: ENSP00000391723.2:p.Leu1020Val
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.3061C>G
  hgvsp: ENSP00000362852.3:p.Leu1021Val
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-788C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.91C>G
  hgvsp: ENSP00000434096.1:p.Leu31Val
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu1020Val
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: G
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum

1-31414923-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414923
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414923
    reference: chr 1
allele count: 1
allele frequency: 8.260366760284156e-6
allele num: 121060
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.3045A>G
  hgvsp: ENST00000373747.3:c.3045A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2964A>G
  hgvsp: ENST00000440538.2:c.2964A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2610A>G
  hgvsp: ENST00000423018.2:c.2610A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.3036A>G
  hgvsp: ENST00000257075.5:c.3036A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.75A>G
  hgvsp: ENST00000530669.1:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3150A>G
  hgvsp: ENST00000373741.4:c.3150A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-804A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2310A>G
  hgvsp: ENST00000424085.2:c.2310A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2859A>G
  hgvsp: ENST00000373742.2:c.2859A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2176A>G
  hgvsp: ENST00000498419.1:c.2176A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2851A>G
  hgvsp: ENST00000525843.1:c.2851A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.338A>G
  hgvsp: ENST00000525997.1:c.338A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.3042A>G
  hgvsp: ENST00000426105.2:c.3042A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 571
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20518
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7074
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2888
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16990
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg1014Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

http://identifiers.org/exac.variant/1-31414933-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414933
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414933
    reference: chr 1
allele count: 1
allele frequency: 8.267879288962381e-6
allele num: 120950
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-814T>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2849T>G
  hgvsp: ENSP00000362847.2:p.Val950Gly
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2600T>G
  hgvsp: ENSP00000399440.2:p.Val867Gly
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.3026T>G
  hgvsp: ENSP00000257075.5:p.Val1009Gly
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2841T>G
  hgvsp: ENSP00000435825.1:p.Val948Gly
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2954T>G
  hgvsp: ENSP00000401777.2:p.Val985Gly
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.65T>G
  hgvsp: ENSP00000434096.1:p.Val22Gly
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2300T>G
  hgvsp: ENSP00000400141.2:p.Val767Gly
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2166T>G
  hgvsp: ENSP00000433850.1:p.Val723Gly
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3140T>G
  hgvsp: ENSP00000362846.4:p.Val1047Gly
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.3035T>G
  hgvsp: ENSP00000362852.3:p.Val1012Gly
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.328T>G
  hgvsp: ENSP00000433373.1:p.Val110Gly
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.3032T>G
  hgvsp: ENSP00000391723.2:p.Val1011Gly
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17017
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7014
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2794
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8331
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Val1011Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP

1-31414938-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414938
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414938
    reference: chr 1
allele count: 117
allele frequency: 1.008029775648758e-3
allele num: 116068
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2836C>G
  hgvsp: ENSP00000435825.1:p.Cys946Trp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.60C>G
  hgvsp: ENSP00000434096.1:p.Cys20Trp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.3030C>G
  hgvsp: ENSP00000362852.3:p.Cys1010Trp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2949C>G
  hgvsp: ENSP00000401777.2:p.Cys983Trp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2595C>G
  hgvsp: ENSP00000399440.2:p.Cys865Trp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.3027C>G
  hgvsp: ENSP00000391723.2:p.Cys1009Trp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2295C>G
  hgvsp: ENSP00000400141.2:p.Cys765Trp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.3021C>G
  hgvsp: ENSP00000257075.5:p.Cys1007Trp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2161C>G
  hgvsp: ENSP00000433850.1:p.Cys721Trp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.323C>G
  hgvsp: ENSP00000433373.1:p.Cys108Trp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-819C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2844C>G
  hgvsp: ENSP00000362847.2:p.Cys948Trp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3135C>G
  hgvsp: ENSP00000362846.4:p.Cys1045Trp
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 6.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 20306
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7931
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 6962
  bin: 3.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
hgvs: p.Cys1009Trp
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

1-31414968-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414968
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414968
    reference: chr 1
allele count: 1
allele frequency: 8.310065150910783e-6
allele num: 120336
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2814A>G
  hgvsp: ENST00000373742.2:c.2814A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2265A>G
  hgvsp: ENST00000424085.2:c.2265A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.3000A>G
  hgvsp: ENST00000373747.3:c.3000A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2131A>G
  hgvsp: ENST00000498419.1:c.2131A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2565A>G
  hgvsp: ENST00000423018.2:c.2565A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2991A>G
  hgvsp: ENST00000257075.5:c.2991A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.293A>G
  hgvsp: ENST00000525997.1:c.293A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2919A>G
  hgvsp: ENST00000440538.2:c.2919A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3105A>G
  hgvsp: ENST00000373741.4:c.3105A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-849A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.30A>G
  hgvsp: ENST00000530669.1:c.30A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2997A>G
  hgvsp: ENST00000426105.2:c.2997A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2806A>G
  hgvsp: ENST00000525843.1:c.2806A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7582
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2997A>G
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

1-31414975-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414975
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414975
    reference: chr 1
allele count: 1
allele frequency: 8.315870006320061e-6
allele num: 120252
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2989-5C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2812-5C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.28-5C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2995-5C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-856C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2804-5C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2998-5C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2563-5C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2917-5C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2263-5C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2129-5C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3103-5C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-5C>T
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7344
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7538
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20502
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2925
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2995-5C>T
num of homozygotes: 0
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD

1-31414978-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414978
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414978
    reference: chr 1
allele count: 2
allele frequency: 1.664308895731048e-5
allele num: 120170
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2804-8A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2129-8A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.28-8A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-8A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-859A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3103-8A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2998-8A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2563-8A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2812-8A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2263-8A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2917-8A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2989-8A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2995-8A>G
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1532
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.2995-8A>G
num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

1-31414986-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414986
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414986
    reference: chr 1
allele count: 11
allele frequency: 9.168806054746107e-5
allele num: 119972
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2263-16G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2917-16G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2129-16G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2812-16G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2563-16G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3103-16G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-867G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2998-16G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.28-16G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2804-16G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-16G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2989-16G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2995-16G>A
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1535
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 20409
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7334
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7306
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2914
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ

1-31414992-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414992
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414992
    reference: chr 1
allele count: 114
allele frequency: 9.515542052018297e-4
allele num: 119804
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2917-22A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-22A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2263-22A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.28-22A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2129-22A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2804-22A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2995-22A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2812-22A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2563-22A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-873A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3103-22A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2998-22A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2989-22A>G
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 20221
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17319
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 7103
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2908
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7319
  bin: 3.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
num of homozygotes: 1
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum

1-31414993-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31414993
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31414993
    reference: chr 1
allele count: 1
allele frequency: 8.348081610845828e-6
allele num: 119788
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-874C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2563-23C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-23C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2129-23C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2263-23C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3103-23C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2998-23C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2989-23C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.28-23C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2995-23C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2804-23C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2812-23C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2917-23C>A
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7313
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17313
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1524
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2898
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1096
  bin: 1.25e1
  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: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: QD

1-31415009-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31415009
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31415009
    reference: chr 1
allele count: 3
allele frequency: 2.512478643931527e-5
allele num: 119404
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2998-39T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2563-39T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2812-39T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-39T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2917-39T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2989-39T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2263-39T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3103-39T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.28-39T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2804-39T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2129-39T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-890T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2995-39T>C
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2871
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5291
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16766
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7133
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5018
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum

1-31415018-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31415018
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31415018
    reference: chr 1
allele count: 1
allele frequency: 8.54642417612471e-6
allele num: 117008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2998-48G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2989-48G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2812-48G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-48G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2563-48G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2917-48G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.28-48G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2995-48G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.448-899G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3103-48G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2263-48G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2129-48G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2804-48G>A
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1012
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8658
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9540
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP

1-31418142-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31418142
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31418142
    reference: chr 1
allele count: 1
allele frequency: 8.262277744728666e-6
allele num: 121032
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2803+51G>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2994+51G>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2811+51G>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2997+51G>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.447+51G>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2128+51G>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2988+51G>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2562+51G>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2262+51G>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.27+51G>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2916+51G>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3102+51G>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-3172G>C
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5629
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1545
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15185
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22749
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/1-31418152-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31418152
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31418152
    reference: chr 1
allele count: 1
allele frequency: 8.253685270473266e-6
allele num: 121158
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2811+41T>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-3182T>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2803+41T>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2562+41T>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2262+41T>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.27+41T>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3102+41T>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2988+41T>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2994+41T>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.447+41T>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2128+41T>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2997+41T>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2916+41T>G
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5606
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 690
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

1-31418157-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31418157
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31418157
    reference: chr 1
allele count: 1
allele frequency: 8.252867871585376e-6
allele num: 121170
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2562+36T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2916+36T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2997+36T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2262+36T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-3187T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.447+36T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2803+36T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2128+36T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2988+36T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2811+36T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3102+36T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2994+36T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.27+36T>C
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23167
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5609
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2761
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

1-31418160-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31418160
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31418160
    reference: chr 1
allele count: 3
allele frequency: 2.475165836111019e-5
allele num: 121204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-3190A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2803+33A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2997+33A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2994+33A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.447+33A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2811+33A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2988+33A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2128+33A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.27+33A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2262+33A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2916+33A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2562+33A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3102+33A>T
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23238
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

1-31418162-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31418162
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31418162
    reference: chr 1
allele count: 23
allele frequency: 1.897627141018448e-4
allele num: 121204
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2988+31C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2803+31C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2811+31C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3102+31C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.27+31C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2916+31C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2128+31C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2562+31C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2997+31C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2262+31C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.447+31C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2994+31C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-3192C>A
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15269
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23257
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7786
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5605
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-31418172-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31418172
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31418172
    reference: chr 1
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3102+21A>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-3202A>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2994+21A>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2916+21A>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.447+21A>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2811+21A>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2128+21A>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2562+21A>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.27+21A>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2803+21A>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2997+21A>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2262+21A>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2988+21A>C
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5604
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7935
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15319
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2757
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum

1-31418182-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31418182
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31418182
    reference: chr 1
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3102+11C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2803+11C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2128+11C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2994+11C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2811+11C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2988+11C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2562+11C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.27+11C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2916+11C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.447+11C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2262+11C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-3212C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2997+11C>T
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23604
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 749
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15344
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

1-31418204-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31418204
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31418204
    reference: chr 1
allele count: 1
allele frequency: 8.2387253044209e-6
allele num: 121378
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2792T>C
  hgvsp: ENSP00000435825.1:p.Phe932Leu
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2117T>C
  hgvsp: ENSP00000433850.1:p.Phe707Leu
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.16T>C
  hgvsp: ENSP00000434096.1:p.Phe6Leu
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2551T>C
  hgvsp: ENSP00000399440.2:p.Phe851Leu
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3091T>C
  hgvsp: ENSP00000362846.4:p.Phe1031Leu
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2986T>C
  hgvsp: ENSP00000362852.3:p.Phe996Leu
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.436T>C
  hgvsp: ENSP00000431213.1:p.Phe146Leu
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2800T>C
  hgvsp: ENSP00000362847.2:p.Phe934Leu
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2905T>C
  hgvsp: ENSP00000401777.2:p.Phe969Leu
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2977T>C
  hgvsp: ENSP00000257075.5:p.Phe993Leu
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-3234T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2251T>C
  hgvsp: ENSP00000400141.2:p.Phe751Leu
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2983T>C
  hgvsp: ENSP00000391723.2:p.Phe995Leu
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7945
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Phe995Leu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

1-31418205-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31418205
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31418205
    reference: chr 1
allele count: 4
allele frequency: 3.295653033648617e-5
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.435G>A
  hgvsp: ENST00000529846.1:c.435G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2791G>A
  hgvsp: ENST00000525843.1:c.2791G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2116G>A
  hgvsp: ENST00000498419.1:c.2116G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3090G>A
  hgvsp: ENST00000373741.4:c.3090G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2904G>A
  hgvsp: ENST00000440538.2:c.2904G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2982G>A
  hgvsp: ENST00000426105.2:c.2982G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.15G>A
  hgvsp: ENST00000530669.1:c.15G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2799G>A
  hgvsp: ENST00000373742.2:c.2799G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2550G>A
  hgvsp: ENST00000423018.2:c.2550G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2250G>A
  hgvsp: ENST00000424085.2:c.2250G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2976G>A
  hgvsp: ENST00000257075.5:c.2976G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2985G>A
  hgvsp: ENST00000373747.3:c.2985G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-3235G>A
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1542
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23661
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7943
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ala994Ala
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

1-31418211-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31418211
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31418211
    reference: chr 1
allele count: 3
allele frequency: 2.471536142096851e-5
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2793C>T
  hgvsp: ENST00000373742.2:c.2793C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2970C>T
  hgvsp: ENST00000257075.5:c.2970C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-3241C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2110C>T
  hgvsp: ENST00000498419.1:c.2110C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3084C>T
  hgvsp: ENST00000373741.4:c.3084C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2544C>T
  hgvsp: ENST00000423018.2:c.2544C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2898C>T
  hgvsp: ENST00000440538.2:c.2898C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2785C>T
  hgvsp: ENST00000525843.1:c.2785C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.429C>T
  hgvsp: ENST00000529846.1:c.429C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2244C>T
  hgvsp: ENST00000424085.2:c.2244C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.9C>T
  hgvsp: ENST00000530669.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2979C>T
  hgvsp: ENST00000373747.3:c.2979C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2976C>T
  hgvsp: ENST00000426105.2:c.2976C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15367
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile992Ile
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

1-31418216-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31418216
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31418216
    reference: chr 1
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3079A>G
  hgvsp: ENSP00000362846.4:p.Ile1027Val
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2788A>G
  hgvsp: ENSP00000362847.2:p.Ile930Val
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2239A>G
  hgvsp: ENSP00000400141.2:p.Ile747Val
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2105A>G
  hgvsp: ENSP00000433850.1:p.Ile703Val
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.424A>G
  hgvsp: ENSP00000431213.1:p.Ile142Val
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2893A>G
  hgvsp: ENSP00000401777.2:p.Ile965Val
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2971A>G
  hgvsp: ENSP00000391723.2:p.Ile991Val
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2539A>G
  hgvsp: ENSP00000399440.2:p.Ile847Val
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-3246A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2974A>G
  hgvsp: ENSP00000362852.3:p.Ile992Val
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2965A>G
  hgvsp: ENSP00000257075.5:p.Ile989Val
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2780A>G
  hgvsp: ENSP00000435825.1:p.Ile928Val
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000434096
  ensembl transcript: ENST00000530669
  gene symbol: PUM1
  hgvsc: ENST00000530669.1:c.4A>G
  hgvsp: ENSP00000434096.1:p.Ile2Val
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2756
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7944
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ile991Val
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: DP

http://identifiers.org/exac.variant/1-31418228-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31418228
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31418228
    reference: chr 1
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2953T>G
  hgvsp: ENSP00000257075.5:p.Ser985Ala
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2962T>G
  hgvsp: ENSP00000362852.3:p.Ser988Ala
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2881T>G
  hgvsp: ENSP00000401777.2:p.Ser961Ala
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2227T>G
  hgvsp: ENSP00000400141.2:p.Ser743Ala
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-3258T>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2093T>G
  hgvsp: ENSP00000433850.1:p.Ser699Ala
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2776T>G
  hgvsp: ENSP00000362847.2:p.Ser926Ala
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2959T>G
  hgvsp: ENSP00000391723.2:p.Ser987Ala
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2768T>G
  hgvsp: ENSP00000435825.1:p.Ser924Ala
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2527T>G
  hgvsp: ENSP00000399440.2:p.Ser843Ala
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3067T>G
  hgvsp: ENSP00000362846.4:p.Ser1023Ala
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.412T>G
  hgvsp: ENSP00000431213.1:p.Ser138Ala
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5600
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23678
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Ser987Ala
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

1-31418231-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31418231
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31418231
    reference: chr 1
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2524C>A
  hgvsp: ENSP00000399440.2:p.Gln842Lys
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-3261C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2878C>A
  hgvsp: ENSP00000401777.2:p.Gln960Lys
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2765C>A
  hgvsp: ENSP00000435825.1:p.Gln923Lys
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2950C>A
  hgvsp: ENSP00000257075.5:p.Gln984Lys
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2224C>A
  hgvsp: ENSP00000400141.2:p.Gln742Lys
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2773C>A
  hgvsp: ENSP00000362847.2:p.Gln925Lys
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3064C>A
  hgvsp: ENSP00000362846.4:p.Gln1022Lys
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2090C>A
  hgvsp: ENSP00000433850.1:p.Gln698Lys
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2956C>A
  hgvsp: ENSP00000391723.2:p.Gln986Lys
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2959C>A
  hgvsp: ENSP00000362852.3:p.Gln987Lys
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.409C>A
  hgvsp: ENSP00000431213.1:p.Gln137Lys
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1540
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Gln986Lys
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

1-31418253-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31418253
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31418253
    reference: chr 1
allele count: 2
allele frequency: 1.647717910693689e-5
allele num: 121380
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3042A>G
  hgvsp: ENST00000373741.4:c.3042A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2502A>G
  hgvsp: ENST00000423018.2:c.2502A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2928A>G
  hgvsp: ENST00000257075.5:c.2928A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2934A>G
  hgvsp: ENST00000426105.2:c.2934A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-3283A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2743A>G
  hgvsp: ENST00000525843.1:c.2743A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2068A>G
  hgvsp: ENST00000498419.1:c.2068A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2751A>G
  hgvsp: ENST00000373742.2:c.2751A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.387A>G
  hgvsp: ENST00000529846.1:c.387A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2937A>G
  hgvsp: ENST00000373747.3:c.2937A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431779
  ensembl transcript: ENST00000527498
  gene symbol: PUM1
  hgvsc: ENST00000527498.1:c.*374A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2202A>G
  hgvsp: ENST00000424085.2:c.2202A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2856A>G
  hgvsp: ENST00000440538.2:c.2856A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5601
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7934
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2755
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Lys978Lys
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

1-31418265-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31418265
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31418265
    reference: chr 1
allele count: 3
allele frequency: 2.471902705909495e-5
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2739C>T
  hgvsp: ENST00000373742.2:c.2739C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-3295C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2190C>T
  hgvsp: ENST00000424085.2:c.2190C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2925C>T
  hgvsp: ENST00000373747.3:c.2925C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2490C>T
  hgvsp: ENST00000423018.2:c.2490C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2056C>T
  hgvsp: ENST00000498419.1:c.2056C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.375C>T
  hgvsp: ENST00000529846.1:c.375C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431779
  ensembl transcript: ENST00000527498
  gene symbol: PUM1
  hgvsc: ENST00000527498.1:c.*362C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2731C>T
  hgvsp: ENST00000525843.1:c.2731C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2916C>T
  hgvsp: ENST00000257075.5:c.2916C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3030C>T
  hgvsp: ENST00000373741.4:c.3030C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2922C>T
  hgvsp: ENST00000426105.2:c.2922C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2844C>T
  hgvsp: ENST00000440538.2:c.2844C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5597
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1539
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7920
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.His974His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: VQSLOD

1-31418290-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31418290
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31418290
    reference: chr 1
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.350G>A
  hgvsp: ENSP00000431213.1:p.Cys117Tyr
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2819G>A
  hgvsp: ENSP00000401777.2:p.Cys940Tyr
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2891G>A
  hgvsp: ENSP00000257075.5:p.Cys964Tyr
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2031G>A
  hgvsp: ENSP00000433850.1:p.Cys678Tyr
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-3320G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2165G>A
  hgvsp: ENSP00000400141.2:p.Cys722Tyr
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2897G>A
  hgvsp: ENSP00000391723.2:p.Cys966Tyr
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2465G>A
  hgvsp: ENSP00000399440.2:p.Cys822Tyr
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2706G>A
  hgvsp: ENSP00000435825.1:p.Cys903Tyr
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2900G>A
  hgvsp: ENSP00000362852.3:p.Cys967Tyr
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.3005G>A
  hgvsp: ENSP00000362846.4:p.Cys1002Tyr
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431779
  ensembl transcript: ENST00000527498
  gene symbol: PUM1
  hgvsc: ENST00000527498.1:c.*337G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2714G>A
  hgvsp: ENSP00000362847.2:p.Cys905Tyr
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5596
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1538
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7928
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23680
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2750
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Cys966Tyr
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

1-31418297-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31418297
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31418297
    reference: chr 1
allele count: 1
allele frequency: 8.241577108195424e-6
allele num: 121336
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2884T>C
  hgvsp: ENST00000257075.5:c.2884T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2812T>C
  hgvsp: ENST00000440538.2:c.2812T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2707T>C
  hgvsp: ENST00000373742.2:c.2707T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.2998T>C
  hgvsp: ENST00000373741.4:c.2998T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-3327T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2699T>C
  hgvsp: ENST00000525843.1:c.2699T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2024T>C
  hgvsp: ENST00000498419.1:c.2024T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431779
  ensembl transcript: ENST00000527498
  gene symbol: PUM1
  hgvsc: ENST00000527498.1:c.*330T>C
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.343T>C
  hgvsp: ENST00000529846.1:c.343T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2158T>C
  hgvsp: ENST00000424085.2:c.2158T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2893T>C
  hgvsp: ENST00000373747.3:c.2893T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2458T>C
  hgvsp: ENST00000423018.2:c.2458T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2890T>C
  hgvsp: ENST00000426105.2:c.2890T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2746
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Leu964Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

1-31418318-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31418318
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31418318
    reference: chr 1
allele count: 1
allele frequency: 8.24551856066228e-6
allele num: 121278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-3348C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.2003C>T
  hgvsp: ENSP00000433850.1:p.Arg669Trp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.322C>T
  hgvsp: ENSP00000431213.1:p.Arg108Trp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2437C>T
  hgvsp: ENSP00000399440.2:p.Arg813Trp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2869C>T
  hgvsp: ENSP00000391723.2:p.Arg957Trp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.2977C>T
  hgvsp: ENSP00000362846.4:p.Arg993Trp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2678C>T
  hgvsp: ENSP00000435825.1:p.Arg894Trp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2686C>T
  hgvsp: ENSP00000362847.2:p.Arg896Trp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2791C>T
  hgvsp: ENSP00000401777.2:p.Arg931Trp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2863C>T
  hgvsp: ENSP00000257075.5:p.Arg955Trp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2137C>T
  hgvsp: ENSP00000400141.2:p.Arg713Trp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2872C>T
  hgvsp: ENSP00000362852.3:p.Arg958Trp
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431779
  ensembl transcript: ENST00000527498
  gene symbol: PUM1
  hgvsc: ENST00000527498.1:c.*309C>T
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 23582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15253
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7995
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5570
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: p.Arg957Trp
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

1-31418339-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31418339
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31418339
    reference: chr 1
allele count: 1
allele frequency: 8.255456856982466e-6
allele num: 121132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.2965-9C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.1991-9C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2666-9C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2860-9C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2674-9C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2425-9C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2851-9C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2125-9C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2779-9C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.310-9C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-3369C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2857-9C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431779
  ensembl transcript: ENST00000527498
  gene symbol: PUM1
  hgvsc: ENST00000527498.1:c.*297-9C>T
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15065
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5531
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23210
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7999
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum

1-31418349-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31418349
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31418349
    reference: chr 1
allele count: 1
allele frequency: 8.261731658955718e-6
allele num: 121040
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2674-19C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.2965-19C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2857-19C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2860-19C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2779-19C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431779
  ensembl transcript: ENST00000527498
  gene symbol: PUM1
  hgvsc: ENST00000527498.1:c.*297-19C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.1991-19C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2666-19C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-3379C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2851-19C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2125-19C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.310-19C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2425-19C>G
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5498
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2706
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7859
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22799
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14873
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

1-31418366-GC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31418366
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31418365
    reference: chr 1
allele count: 1
allele frequency: 8.279653579294243e-6
allele num: 120778
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.310-37delG
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.1991-37delG
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2779-37delG
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2666-37delG
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2425-37delG
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2125-37delG
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.2965-37delG
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2674-37delG
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-3397delG
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2857-37delG
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2860-37delG
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2851-37delG
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431779
  ensembl transcript: ENST00000527498
  gene symbol: PUM1
  hgvsc: ENST00000527498.1:c.*297-37delG
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5345
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4081
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2944
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1518
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13806
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: GC
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

1-31418375-CAT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31418375
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31418373
    reference: chr 1
allele count: 2
allele frequency: 1.662869780667476e-5
allele num: 120274
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.1991-47_1991-46delAT
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-3407_291-3406delAT
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431779
  ensembl transcript: ENST00000527498
  gene symbol: PUM1
  hgvsc: ENST00000527498.1:c.*297-47_*297-46delAT
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2425-47_2425-46delAT
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2779-47_2779-46delAT
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2666-47_2666-46delAT
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2860-47_2860-46delAT
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2851-47_2851-46delAT
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.310-47_310-46delAT
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.2965-47_2965-46delAT
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2857-47_2857-46delAT
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2125-47_2125-46delAT
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2674-47_2674-46delAT
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10818
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2623
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3065
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8733
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4988
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10644
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14127
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: CAT
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

1-31418377-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31418377
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31418377
    reference: chr 1
allele count: 3
allele frequency: 2.497752023179139e-5
allele num: 120108
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.1991-47A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2779-47A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2425-47A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431779
  ensembl transcript: ENST00000527498
  gene symbol: PUM1
  hgvsc: ENST00000527498.1:c.*297-47A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2125-47A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2860-47A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.310-47A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.2965-47A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2674-47A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2851-47A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2666-47A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2857-47A>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-3407A>T
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8705
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12808
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
population: African
population: Latino
reference allele: T
site quality: MQ
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum

1-31418377-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31418377
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31418377
    reference: chr 1
allele count: 3
allele frequency: 2.497752023179139e-5
allele num: 120108
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.2965-47A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-3407A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2674-47A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2125-47A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2860-47A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2666-47A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.1991-47A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431779
  ensembl transcript: ENST00000527498
  gene symbol: PUM1
  hgvsc: ENST00000527498.1:c.*297-47A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2851-47A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2425-47A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2857-47A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.310-47A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2779-47A>G
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4792
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 746
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3068
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2609
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8705
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

1-31418381-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31418381
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31418381
    reference: chr 1
allele count: 3
allele frequency: 2.508193431877466e-5
allele num: 119608
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2666-51C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.2965-51C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2851-51C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2857-51C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431779
  ensembl transcript: ENST00000527498
  gene symbol: PUM1
  hgvsc: ENST00000527498.1:c.*297-51C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.291-3411C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2125-51C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2779-51C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2860-51C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2674-51C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2425-51C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.1991-51C>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.310-51C>A
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8670
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2596
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4710
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1506
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13834
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8680
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3113
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13300
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 486
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum

1-31421913-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31421913
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31421913
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 19692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2778+1061C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2673+1067C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2850+1067C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2124+1067C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2859+1061C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2424+1061C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.290+1067C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2665+1067C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431779
  ensembl transcript: ENST00000527498
  gene symbol: PUM1
  hgvsc: ENST00000527498.1:c.*296+1061C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.1990+1061C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.2964+1061C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.309+1061C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2856+1061C>T
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: intron
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27301
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17427
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6309
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

1-31421937-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31421937
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31421937
    reference: chr 1
allele count: 4
allele frequency: 2.838087129274869e-4
allele num: 14094
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.2964+1037G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2778+1037G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2856+1037G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2124+1043G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431779
  ensembl transcript: ENST00000527498
  gene symbol: PUM1
  hgvsc: ENST00000527498.1:c.*296+1037G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2673+1043G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2859+1037G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2665+1043G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.1990+1037G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2850+1043G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2424+1037G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.309+1037G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.290+1043G>A
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30982
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13548
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5165
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

1-31421943-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31421943
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31421943
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 9478
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.309+1031A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.1990+1031A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431779
  ensembl transcript: ENST00000527498
  gene symbol: PUM1
  hgvsc: ENST00000527498.1:c.*296+1031A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2673+1037A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2424+1031A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2665+1037A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2856+1031A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2850+1037A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2124+1037A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2778+1031A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.290+1037A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2859+1031A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.2964+1031A>G
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12827
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32373
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3795
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

1-31421947-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31421947
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31421947
    reference: chr 1
allele count: 1
allele frequency: 2.055076037813399e-4
allele num: 4866
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2859+1027C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2124+1033C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.309+1027C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2673+1033C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.1990+1027C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.290+1033C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2778+1027C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.2964+1027C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2665+1033C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2850+1033C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431779
  ensembl transcript: ENST00000527498
  gene symbol: PUM1
  hgvsc: ENST00000527498.1:c.*296+1027C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2424+1027C>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2856+1027C>G
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 12832
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2597
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

1-31421982-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31421982
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31421982
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 6608
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2424+992A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202107
  ensembl transcript: ENST00000365237
  gene symbol: SNORD103B
  hgvsc: ENST00000365237.1:n.68A>G
  variant of: http://identifiers.org/hgnc/32767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2665+998A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2124+998A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2778+992A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2673+998A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.2964+992A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2850+998A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431779
  ensembl transcript: ENST00000527498
  gene symbol: PUM1
  hgvsc: ENST00000527498.1:c.*296+992A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2856+992A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2859+992A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.309+992A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.290+998A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.1990+992A>G
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16449
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

1-31421986-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31421986
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31421986
    reference: chr 1
allele count: 21
allele frequency: 2.889378095762246e-3
allele num: 7268
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.309+988A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2673+994A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2665+994A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2124+994A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202107
  ensembl transcript: ENST00000365237
  gene symbol: SNORD103B
  hgvsc: ENST00000365237.1:n.64A>G
  variant of: http://identifiers.org/hgnc/32767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2778+988A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431779
  ensembl transcript: ENST00000527498
  gene symbol: PUM1
  hgvsc: ENST00000527498.1:c.*296+988A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2424+988A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2856+988A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2850+994A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2859+988A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.1990+988A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.2964+988A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.290+994A>G
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16020
  bin: 7.5e0
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 1.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 32875
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

1-31421990-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31421990
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31421990
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 7738
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2859+984G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2673+990G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431779
  ensembl transcript: ENST00000527498
  gene symbol: PUM1
  hgvsc: ENST00000527498.1:c.*296+984G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202107
  ensembl transcript: ENST00000365237
  gene symbol: SNORD103B
  hgvsc: ENST00000365237.1:n.60G>A
  variant of: http://identifiers.org/hgnc/32767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2778+984G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2424+984G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2850+990G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2124+990G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.309+984G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2665+990G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.290+990G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.2964+984G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.1990+984G>A
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2856+984G>A
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 33011
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15476
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

1-31422003-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31422003
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31422003
    reference: chr 1
allele count: 0
allele frequency: 0.0e0
allele num: 9010
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431779
  ensembl transcript: ENST00000527498
  gene symbol: PUM1
  hgvsc: ENST00000527498.1:c.*296+971A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2856+971A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2778+971A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202107
  ensembl transcript: ENST00000365237
  gene symbol: SNORD103B
  hgvsc: ENST00000365237.1:n.47A>G
  variant of: http://identifiers.org/hgnc/32767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2850+977A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.1990+971A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.290+977A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.309+971A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2673+977A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2424+971A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2124+977A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2665+977A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.2964+971A>G
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2859+971A>G
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 553
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33943
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12634
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

1-31422007-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 31422007
    reference: chr 1
  end: Position
    type: ExactPosition
    position: 31422007
    reference: chr 1
allele count: 1
allele frequency: 1.088139281828074e-4
allele num: 9190
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000257075
  ensembl transcript: ENST00000257075
  gene symbol: PUM1
  hgvsc: ENST00000257075.5:c.2850+973C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362847
  ensembl transcript: ENST00000373742
  gene symbol: PUM1
  hgvsc: ENST00000373742.2:c.2673+973C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362846
  ensembl transcript: ENST00000373741
  gene symbol: PUM1
  hgvsc: ENST00000373741.4:c.2964+967C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000399440
  ensembl transcript: ENST00000423018
  gene symbol: PUM1
  hgvsc: ENST00000423018.2:c.2424+967C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431779
  ensembl transcript: ENST00000527498
  gene symbol: PUM1
  hgvsc: ENST00000527498.1:c.*296+967C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433373
  ensembl transcript: ENST00000525997
  gene symbol: PUM1
  hgvsc: ENST00000525997.1:c.290+973C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000362852
  ensembl transcript: ENST00000373747
  gene symbol: PUM1
  hgvsc: ENST00000373747.3:c.2859+967C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000435825
  ensembl transcript: ENST00000525843
  gene symbol: PUM1
  hgvsc: ENST00000525843.1:c.2665+973C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000401777
  ensembl transcript: ENST00000440538
  gene symbol: PUM1
  hgvsc: ENST00000440538.2:c.2778+967C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000400141
  ensembl transcript: ENST00000424085
  gene symbol: PUM1
  hgvsc: ENST00000424085.2:c.2124+973C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000433850
  ensembl transcript: ENST00000498419
  gene symbol: PUM1
  hgvsc: ENST00000498419.1:c.1990+967C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000202107
  ensembl transcript: ENST00000365237
  gene symbol: SNORD103B
  hgvsc: ENST00000365237.1:n.43C>T
  variant of: http://identifiers.org/hgnc/32767
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000431213
  ensembl transcript: ENST00000529846
  gene symbol: PUM1
  hgvsc: ENST00000529846.1:c.309+967C>T
  variant of: http://identifiers.org/hgnc/14957
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000134644
  ensembl protein: ENSP00000391723
  ensembl transcript: ENST00000426105
  gene symbol: PUM1
  hgvsc: ENST00000426105.2:c.2856+967C>T
  variant of: http://identifiers.org/hgnc/14957
canonical: true
consequence: non coding transcript exon
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1077
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34153
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11789
  bin: 7.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2773
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: G

GenotypeDepth
all individuals: 126
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7077
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 169
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 136
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 3436
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 709
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34325
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 966
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2776
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 12059
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4025
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2105
bin: 8.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503849855630414e-5
allele num: 66496
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158211721102618e-4
allele num: 8634
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.643042350907519e-5
allele num: 11570
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

FS
type: SiteQuality
SIO_000300: 2.543e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.31e-1

DP
type: SiteQuality
SIO_000300: 1.929427e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.27e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.447e0

QD
type: SiteQuality
SIO_000300: 1.175e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.48e-1

GenotypeDepth
all individuals: 569
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 134
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 85
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 287
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2775
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 34346
bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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European (Finnish)
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African
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Latino
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European (Non-Finnish)
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South Asian
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FS
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ClippingRankSum
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InbreedingCoeff
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MQ
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BaseQRankSum
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VQSLOD
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DP
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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European (Finnish)
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East Asian
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South Asian
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European (Non-Finnish)
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FS
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BaseQRankSum
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QD
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VQSLOD
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MQ
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ReadPosRankSum
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MQRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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South Asian
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Latino
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Other
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East Asian
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VQSLOD
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FS
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MQRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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MQ
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InbreedingCoeff
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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South Asian
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European (Non-Finnish)
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African
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Latino
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European (Finnish)
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ReadPosRankSum
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MQRankSum
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FS
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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QD
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DP
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MQ
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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European (Finnish)
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Other
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East Asian
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Latino
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South Asian
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DP
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FS
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MQ
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InbreedingCoeff
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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QD
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MQRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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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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MQ
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VQSLOD
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FS
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QD
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InbreedingCoeff
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DP
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ClippingRankSum
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African
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European (Non-Finnish)
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East Asian
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European (Finnish)
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num of homozygotes: 0

InbreedingCoeff
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MQRankSum
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FS
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VQSLOD
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ClippingRankSum
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DP
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ReadPosRankSum
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MQ
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

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

Other
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East Asian
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allele frequency: 0.0e0
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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: 1.500285054160291e-5
allele num: 66654
num of homozygotes: 0

European (Finnish)
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VQSLOD
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FS
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MQ
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ReadPosRankSum
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DP
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InbreedingCoeff
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BaseQRankSum
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QD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6614
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

African
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allele count: 0
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num of homozygotes: 0

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

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

MQ
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FS
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BaseQRankSum
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QD
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VQSLOD
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InbreedingCoeff
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ClippingRankSum
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MQRankSum
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SIO_000300: 8.51e-1

ReadPosRankSum
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SIO_000300: 1.45e-1

DP
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SIO_000300: 1.932653e6

GenotypeDepth
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16502
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11572
num of homozygotes: 0

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

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

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

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

MQ
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SIO_000300: 5.982e1

FS
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DP
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VQSLOD
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ReadPosRankSum
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ClippingRankSum
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BaseQRankSum
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InbreedingCoeff
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
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allele num: 66654
num of homozygotes: 0

East Asian
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Other
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European (Finnish)
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African
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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FS
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DP
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MQ
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ReadPosRankSum
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele num: 16500
num of homozygotes: 0

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

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

East Asian
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allele num: 8640
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Latino
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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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African
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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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BaseQRankSum
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InbreedingCoeff
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QD
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FS
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MQRankSum
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ReadPosRankSum
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DP
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VQSLOD
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele frequency: 1.818181818181818e-4
allele num: 16500
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Latino
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num of homozygotes: 0

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

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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num of homozygotes: 0

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

European (Non-Finnish)
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allele num: 66634
num of homozygotes: 0

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

European (Finnish)
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num of homozygotes: 0

InbreedingCoeff
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ReadPosRankSum
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MQRankSum
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FS
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QD
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DP
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MQ
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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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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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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South Asian
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allele num: 16500
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African
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European (Finnish)
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European (Non-Finnish)
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FS
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MQ
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ClippingRankSum
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DP
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ReadPosRankSum
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BaseQRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 11572
num of homozygotes: 0

East Asian
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Other
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South Asian
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African
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European (Finnish)
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European (Non-Finnish)
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FS
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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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DP
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QD
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MQRankSum
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VQSLOD
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GenotypeDepth
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variant carriers: 0

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

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

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

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

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

African
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allele frequency: 0.0e0
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Other
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South Asian
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MQ
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SIO_000300: 5.98e1

MQRankSum
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ClippingRankSum
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InbreedingCoeff
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BaseQRankSum
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VQSLOD
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QD
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FS
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ReadPosRankSum
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SIO_000300: -2.24e-1

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10298
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.106194690265487e-3
allele num: 904
num of homozygotes: 0

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

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.64e-1

BaseQRankSum
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SIO_000300: -3.022e0

InbreedingCoeff
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SIO_000300: -4.0e-4

VQSLOD
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MQRankSum
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FS
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SIO_000300: 3.8486e1

ClippingRankSum
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SIO_000300: -1.234e0

QD
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SIO_000300: 5.8e-1

MQ
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SIO_000300: 5.925e1

DP
type: SiteQuality
SIO_000300: 1.923354e6

GenotypeDepth
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variant carriers: 11

GenotypeDepth
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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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allele count: 5
allele frequency: 6.142506142506142e-3
allele num: 814
num of homozygotes: 0

African
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allele count: 10
allele frequency: 1.044059302568386e-3
allele num: 9578
num of homozygotes: 0

European (Finnish)
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allele count: 44
allele frequency: 7.809726659566915e-3
allele num: 5634
num of homozygotes: 0

East Asian
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allele count: 3
allele frequency: 3.539405379896178e-4
allele num: 8476
num of homozygotes: 0

Latino
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allele count: 3
allele frequency: 2.624212736179146e-4
allele num: 11432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
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European (Non-Finnish)
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allele count: 52
allele frequency: 8.166598611678236e-4
allele num: 63674
num of homozygotes: 0

BaseQRankSum
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SIO_000300: -3.487e0

VQSLOD
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ClippingRankSum
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InbreedingCoeff
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FS
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SIO_000300: 8.8952e1

DP
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MQRankSum
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SIO_000300: 6.7e-2

MQ
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SIO_000300: 5.909e1

QD
type: SiteQuality
SIO_000300: 8.3e-1

ReadPosRankSum
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SIO_000300: -2.435e0

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

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

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

European (Non-Finnish)
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allele count: 1
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European (Finnish)
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South Asian
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East Asian
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BaseQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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MQ
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InbreedingCoeff
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FS
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MQRankSum
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ClippingRankSum
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DP
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GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele count: 1
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Latino
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ClippingRankSum
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FS
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DP
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MQ
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Finnish)
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num of homozygotes: 0

Other
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African
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South Asian
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European (Non-Finnish)
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allele num: 66024
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Latino
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East Asian
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InbreedingCoeff
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BaseQRankSum
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DP
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MQ
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MQRankSum
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ReadPosRankSum
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QD
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VQSLOD
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FS
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ClippingRankSum
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GenotypeDepth
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variant carriers: 1

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

African
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allele count: 7
allele frequency: 6.936187078874356e-4
allele num: 10092
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8558
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

Other
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allele count: 1
allele frequency: 1.118568232662192e-3
allele num: 894
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.551247041689423e-5
allele num: 65916
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: 4.22e0

InbreedingCoeff
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SIO_000300: 2.03e-2

ReadPosRankSum
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SIO_000300: 3.8e-1

MQRankSum
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QD
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ClippingRankSum
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SIO_000300: -1.81e-1

BaseQRankSum
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SIO_000300: -3.227e0

DP
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SIO_000300: 1.899273e6

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeDepth
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variant carriers: 9

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

African
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allele count: 103
allele frequency: 1.02263701350278e-2
allele num: 10072
num of homozygotes: 1

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

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

European (Non-Finnish)
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allele count: 5
allele frequency: 7.596936915035857e-5
allele num: 65816
num of homozygotes: 0

Latino
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allele count: 5
allele frequency: 4.358437935843794e-4
allele num: 11472
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.096817461285209e-5
allele num: 16402
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: 1.49e-2

MQRankSum
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SIO_000300: 1.5e-1

ClippingRankSum
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FS
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ReadPosRankSum
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VQSLOD
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DP
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MQ
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QD
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SIO_000300: 1.349e1

BaseQRankSum
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SIO_000300: -3.368e0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.51952590791673e-5
allele num: 65810
num of homozygotes: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11470
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
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SIO_000300: 2.41e-1

ClippingRankSum
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SIO_000300: 1.01e0

ReadPosRankSum
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SIO_000300: 4.2e-2

MQ
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SIO_000300: 6.0e1

VQSLOD
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InbreedingCoeff
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SIO_000300: 1.9e-3

DP
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SIO_000300: 1.88713e6

BaseQRankSum
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SIO_000300: -3.526e0

QD
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SIO_000300: 1.027e1

GenotypeDepth
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variant carriers: 1

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
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16364
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6604
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8502
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.050547573289405e-5
allele num: 65562
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.962143853357243e-5
allele num: 10038
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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QD
type: SiteQuality
SIO_000300: 1.399e1

FS
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SIO_000300: 0.0e0

DP
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MQRankSum
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MQ
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SIO_000300: 5.971e1

ClippingRankSum
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SIO_000300: 6.32e-1

BaseQRankSum
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SIO_000300: -5.46e-1

InbreedingCoeff
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SIO_000300: 3.9e-3

VQSLOD
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SIO_000300: 7.73e-1

ReadPosRankSum
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SIO_000300: -3.64e-1

GenotypeDepth
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64166
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8266
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.93814801573114e-5
allele num: 11188
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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FS
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QD
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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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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variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.501726986033939e-5
allele num: 66590
num of homozygotes: 0

Latino
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South Asian
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allele frequency: 0.0e0
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East Asian
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African
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MQRankSum
type: SiteQuality
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BaseQRankSum
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DP
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ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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FS
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VQSLOD
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MQ
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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Latino
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South Asian
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European (Finnish)
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European (Non-Finnish)
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Other
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DP
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MQ
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MQRankSum
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InbreedingCoeff
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QD
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VQSLOD
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FS
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ReadPosRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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South Asian
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East Asian
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Latino
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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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BaseQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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African
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European (Finnish)
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South Asian
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European (Non-Finnish)
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Other
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BaseQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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MQRankSum
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MQ
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InbreedingCoeff
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ClippingRankSum
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DP
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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Other
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African
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Latino
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East Asian
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European (Finnish)
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ClippingRankSum
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VQSLOD
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InbreedingCoeff
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QD
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MQ
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ReadPosRankSum
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DP
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FS
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MQRankSum
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BaseQRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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Other
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South Asian
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European (Non-Finnish)
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African
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European (Finnish)
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MQRankSum
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DP
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MQ
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VQSLOD
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ClippingRankSum
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QD
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FS
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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Latino
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South Asian
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European (Non-Finnish)
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DP
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MQRankSum
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VQSLOD
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InbreedingCoeff
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QD
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ReadPosRankSum
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FS
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BaseQRankSum
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MQ
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ClippingRankSum
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African
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European (Non-Finnish)
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South Asian
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East Asian
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European (Finnish)
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QD
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FS
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BaseQRankSum
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SIO_000300: -6.2e-2

InbreedingCoeff
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SIO_000300: -1.0e-4

DP
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MQ
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MQRankSum
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SIO_000300: 5.69e-1

ReadPosRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: 8.999999999999999e-3

GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

South Asian
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allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

East Asian
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allele frequency: 1.157407407407407e-4
allele num: 8640
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African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

MQ
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FS
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MQRankSum
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BaseQRankSum
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DP
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ClippingRankSum
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InbreedingCoeff
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SIO_000300: 2.65e-2

QD
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ReadPosRankSum
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VQSLOD
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GenotypeDepth
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variant carriers: 1

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

South Asian
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allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

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

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

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

QD
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SIO_000300: 9.880000000000001e0

ReadPosRankSum
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SIO_000300: 4.4e-2

BaseQRankSum
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SIO_000300: 1.7e0

InbreedingCoeff
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SIO_000300: 0.0e0

ClippingRankSum
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SIO_000300: -3.13e-1

VQSLOD
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MQRankSum
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FS
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MQ
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SIO_000300: 5.951e1

DP
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SIO_000300: 1.960364e6

GenotypeDepth
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variant carriers: 1

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

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498486528606108e-5
allele num: 66734
num of homozygotes: 0

InbreedingCoeff
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MQ
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VQSLOD
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BaseQRankSum
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MQRankSum
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FS
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SIO_000300: 0.0e0

ReadPosRankSum
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ClippingRankSum
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SIO_000300: 4.5e-2

DP
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QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

Other
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allele frequency: 0.0e0
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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: 16510
num of homozygotes: 0

European (Finnish)
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allele count: 0
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num of homozygotes: 0

East Asian
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BaseQRankSum
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DP
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QD
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VQSLOD
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MQRankSum
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ReadPosRankSum
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FS
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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: 1

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

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

Other
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European (Non-Finnish)
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allele num: 66736
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European (Finnish)
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num of homozygotes: 0

East Asian
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DP
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ClippingRankSum
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ReadPosRankSum
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QD
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InbreedingCoeff
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FS
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BaseQRankSum
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MQRankSum
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MQ
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VQSLOD
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GenotypeDepth
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variant carriers: 1

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

European (Non-Finnish)
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allele count: 2
allele frequency: 2.997242536866083e-5
allele num: 66728
num of homozygotes: 0

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

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

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allele frequency: 0.0e0
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num of homozygotes: 0

Latino
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num of homozygotes: 0

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

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

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

Latino
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num of homozygotes: 0

European (Finnish)
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Other
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African
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South Asian
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European (Non-Finnish)
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MQRankSum
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BaseQRankSum
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DP
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VQSLOD
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MQ
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FS
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InbreedingCoeff
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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 num: 66426
num of homozygotes: 0

South Asian
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Other
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Latino
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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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ReadPosRankSum
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MQRankSum
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DP
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InbreedingCoeff
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FS
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VQSLOD
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BaseQRankSum
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QD
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ClippingRankSum
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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African
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Latino
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Other
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South Asian
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European (Non-Finnish)
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European (Finnish)
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MQRankSum
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FS
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VQSLOD
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MQ
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InbreedingCoeff
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ClippingRankSum
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DP
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 6590
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.02672599049608e-5
allele num: 66078
num of homozygotes: 0

Other
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num of homozygotes: 0

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

African
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allele count: 1
allele frequency: 9.703085581214826e-5
allele num: 10306
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
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DP
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ClippingRankSum
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MQRankSum
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VQSLOD
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BaseQRankSum
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SIO_000300: 2.6e-1

FS
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SIO_000300: 1.258e0

InbreedingCoeff
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SIO_000300: 3.9e-3

ReadPosRankSum
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GenotypeDepth
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variant carriers: 1

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.51336299524804e-5
allele num: 66078
num of homozygotes: 0

South Asian
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allele frequency: 1.226542377039127e-4
allele num: 16306
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 898
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10306
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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FS
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VQSLOD
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InbreedingCoeff
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DP
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BaseQRankSum
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ClippingRankSum
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SIO_000300: -2.9e-2

MQ
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ReadPosRankSum
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MQRankSum
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SIO_000300: 4.1e-1

QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

European (Non-Finnish)
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allele count: 1
allele frequency: 1.519756838905775e-5
allele num: 65800
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16222
num of homozygotes: 0

African
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num of homozygotes: 0

Other
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num of homozygotes: 0

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
allele num: 6580
num of homozygotes: 0

Latino
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allele frequency: 1.758087201125176e-4
allele num: 11376
num of homozygotes: 0

VQSLOD
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SIO_000300: -1.742e0

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

GenotypeDepth
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variant carriers: 0

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

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

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

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

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 580
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 7988
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 556
num of homozygotes: 0

South Asian
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allele frequency: 7.18132854578097e-4
allele num: 5570
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1092
num of homozygotes: 0

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 406
num of homozygotes: 0

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

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

Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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South Asian
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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ClippingRankSum
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MQ
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ReadPosRankSum
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DP
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InbreedingCoeff
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1.492537313432836e-3
allele num: 670
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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Other
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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East Asian
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FS
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DP
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QD
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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ClippingRankSum
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InbreedingCoeff
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MQRankSum
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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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allele frequency: 0.0e0
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num of homozygotes: 0

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