12-48491815-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491815
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491815
    reference: chr 12
allele count: 1
allele frequency: 8.649172274213358e-6
allele num: 115618
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.97G>A
  hgvsp: ENSP00000450076.1:p.Gly33Ser
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.97G>A
  hgvsp: ENSP00000004980.5:p.Gly33Ser
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.97G>A
  hgvsp: ENSP00000446681.1:p.Gly33Ser
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.193G>A
  hgvsp: ENSP00000344652.6:p.Gly65Ser
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000551592
  gene symbol: SENP1
  hgvsc: ENST00000551592.1:n.3G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.76G>A
  hgvsp: ENSP00000448597.1:p.Gly26Ser
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.97G>A
  hgvsp: ENSP00000447328.1:p.Gly33Ser
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.180G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.97G>A
  hgvsp: ENSP00000394791.1:p.Gly33Ser
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.97G>A
  hgvsp: ENSP00000447593.1:p.Gly33Ser
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.160G>A
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9065
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1913
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37795
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
hgvs: p.Gly33Ser
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD

12-48491828-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491828
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491828
    reference: chr 12
allele count: 1
allele frequency: 8.632298608473465e-6
allele num: 115844
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.84C>T
  hgvsp: ENST00000004980.5:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.84C>T
  hgvsp: ENST00000552189.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.84C>T
  hgvsp: ENST00000551330.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.63C>T
  hgvsp: ENST00000551798.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.84C>T
  hgvsp: ENST00000448372.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.84C>T
  hgvsp: ENST00000549595.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.167C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.84C>T
  hgvsp: ENST00000549518.1:c.84C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.180C>T
  hgvsp: ENST00000339976.6:c.180C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.147C>T
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: synonymous
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 9773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34660
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38165
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu28Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: African
population: Latino
reference allele: G
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: MQRankSum

12-48491828-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491828
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491827
    reference: chr 12
allele count: 1
allele frequency: 8.632298608473465e-6
allele num: 115844
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.146delT
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.166delT
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.83delT
  hgvsp: ENSP00000004980.5:p.Leu28ProfsTer60
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.83delT
  hgvsp: ENSP00000446681.1:p.Leu28ProfsTer60
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.83delT
  hgvsp: ENSP00000447593.1:p.Leu28ProfsTer62
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.83delT
  hgvsp: ENSP00000450076.1:p.Leu28ProfsTer60
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.83delT
  hgvsp: ENSP00000447328.1:p.Leu28ProfsTer60
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.179delT
  hgvsp: ENSP00000344652.6:p.Leu60ProfsTer62
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.83delT
  hgvsp: ENSP00000394791.1:p.Leu28ProfsTer60
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.62delT
  hgvsp: ENSP00000448597.1:p.Leu21ProfsTer60
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3430
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2428
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu28ProfsTer60
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: GA
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

12-48491829-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491829
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491829
    reference: chr 12
allele count: 809
allele frequency: 7.382329859653605e-3
allele num: 109586
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.146T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.83T>C
  hgvsp: ENSP00000450076.1:p.Leu28Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.83T>C
  hgvsp: ENSP00000447593.1:p.Leu28Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.83T>C
  hgvsp: ENSP00000446681.1:p.Leu28Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.83T>C
  hgvsp: ENSP00000394791.1:p.Leu28Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.83T>C
  hgvsp: ENSP00000004980.5:p.Leu28Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.179T>C
  hgvsp: ENSP00000344652.6:p.Leu60Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.62T>C
  hgvsp: ENSP00000448597.1:p.Leu21Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.166T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.83T>C
  hgvsp: ENSP00000447328.1:p.Leu28Pro
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 4.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 5.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 33410
  bin: 2.25e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 4009
  bin: 1.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 7.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 3.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 9454
  bin: 2.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 9.75e1
  variant carriers: 365
genotype depth: GenotypeDepth
  all individuals: 2445
  bin: 3.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 9.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 5.25e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 7.75e1
  variant carriers: 5
hgvs: p.Leu28Pro
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: QD
site quality: VQSLOD

12-48491832-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491832
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491832
    reference: chr 12
allele count: 812
allele frequency: 7.376319470939845e-3
allele num: 110082
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.143A>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.80A>C
  hgvsp: ENSP00000447593.1:p.His27Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.80A>C
  hgvsp: ENSP00000394791.1:p.His27Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.59A>C
  hgvsp: ENSP00000448597.1:p.His20Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.163A>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.176A>C
  hgvsp: ENSP00000344652.6:p.His59Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.80A>C
  hgvsp: ENSP00000446681.1:p.His27Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.80A>C
  hgvsp: ENSP00000450076.1:p.His27Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.80A>C
  hgvsp: ENSP00000447328.1:p.His27Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.80A>C
  hgvsp: ENSP00000004980.5:p.His27Pro
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 6286
  bin: 1.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 29866
  bin: 2.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 7.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 4.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 9968
  bin: 2.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 8.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 3350
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2266
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 8.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.75e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2829
  bin: 3.25e1
  variant carriers: 50
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 6.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.25e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 9.75e1
  variant carriers: 342
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 8.25e1
  variant carriers: 7
hgvs: p.His27Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: Other
reference allele: T
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

12-48491836-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491836
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491836
    reference: chr 12
allele count: 150
allele frequency: 1.303871629491838e-3
allele num: 115042
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.76A>C
  hgvsp: ENSP00000394791.1:p.Thr26Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.76A>C
  hgvsp: ENSP00000447593.1:p.Thr26Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.159A>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.76A>C
  hgvsp: ENSP00000450076.1:p.Thr26Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.139A>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.76A>C
  hgvsp: ENSP00000447328.1:p.Thr26Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.172A>C
  hgvsp: ENSP00000344652.6:p.Thr58Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.55A>C
  hgvsp: ENSP00000448597.1:p.Thr19Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.76A>C
  hgvsp: ENSP00000446681.1:p.Thr26Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.76A>C
  hgvsp: ENSP00000004980.5:p.Thr26Pro
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 5101
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 29958
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2498
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3384
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11876
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 9.75e1
  variant carriers: 103
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr26Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

12-48491838-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491838
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491838
    reference: chr 12
allele count: 1
allele frequency: 8.623365872167224e-6
allele num: 115964
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.74A>G
  hgvsp: ENSP00000004980.5:p.Lys25Arg
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.74A>G
  hgvsp: ENSP00000450076.1:p.Lys25Arg
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.74A>G
  hgvsp: ENSP00000394791.1:p.Lys25Arg
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.74A>G
  hgvsp: ENSP00000446681.1:p.Lys25Arg
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.74A>G
  hgvsp: ENSP00000447328.1:p.Lys25Arg
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.170A>G
  hgvsp: ENSP00000344652.6:p.Lys57Arg
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.74A>G
  hgvsp: ENSP00000447593.1:p.Lys25Arg
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.157A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.137A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.53A>G
  hgvsp: ENSP00000448597.1:p.Lys18Arg
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12336
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5002
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4223
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Lys25Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: T
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-48491845-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491845
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491845
    reference: chr 12
allele count: 2
allele frequency: 1.726728023069086e-5
allele num: 115826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.67G>A
  hgvsp: ENSP00000447328.1:p.Val23Ile
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.150G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.67G>A
  hgvsp: ENSP00000447593.1:p.Val23Ile
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.67G>A
  hgvsp: ENSP00000450076.1:p.Val23Ile
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.130G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.67G>A
  hgvsp: ENSP00000394791.1:p.Val23Ile
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.67G>A
  hgvsp: ENSP00000446681.1:p.Val23Ile
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.46G>A
  hgvsp: ENSP00000448597.1:p.Val16Ile
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.163G>A
  hgvsp: ENSP00000344652.6:p.Val55Ile
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.67G>A
  hgvsp: ENSP00000004980.5:p.Val23Ile
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2416
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2303
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4828
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1596
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val23Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

12-48491846-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491846
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491846
    reference: chr 12
allele count: 1
allele frequency: 8.632745731107236e-6
allele num: 115838
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.66C>T
  hgvsp: ENST00000448372.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.66C>T
  hgvsp: ENST00000551330.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.45C>T
  hgvsp: ENST00000551798.1:c.45C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.66C>T
  hgvsp: ENST00000549518.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.66C>T
  hgvsp: ENST00000004980.5:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.149C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.66C>T
  hgvsp: ENST00000549595.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.66C>T
  hgvsp: ENST00000552189.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.162C>T
  hgvsp: ENST00000339976.6:c.162C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.129C>T
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12188
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser22Ser
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

12-48491846-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491846
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491846
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 115838
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.66C>A
  hgvsp: ENST00000004980.5:c.66C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.66C>A
  hgvsp: ENST00000552189.1:c.66C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.162C>A
  hgvsp: ENST00000339976.6:c.162C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.149C>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.129C>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.45C>A
  hgvsp: ENST00000551798.1:c.45C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.66C>A
  hgvsp: ENST00000549595.1:c.66C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.66C>A
  hgvsp: ENST00000448372.1:c.66C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.66C>A
  hgvsp: ENST00000551330.1:c.66C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.66C>A
  hgvsp: ENST00000549518.1:c.66C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: synonymous
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12188
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30233
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3468
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1685
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser22Ser
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: MQ

12-48491847-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491847
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491847
    reference: chr 12
allele count: 1
allele frequency: 8.622622311897494e-6
allele num: 115974
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.65C>G
  hgvsp: ENSP00000004980.5:p.Ser22Cys
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.65C>G
  hgvsp: ENSP00000447593.1:p.Ser22Cys
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.44C>G
  hgvsp: ENSP00000448597.1:p.Ser15Cys
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.65C>G
  hgvsp: ENSP00000394791.1:p.Ser22Cys
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.65C>G
  hgvsp: ENSP00000446681.1:p.Ser22Cys
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.65C>G
  hgvsp: ENSP00000450076.1:p.Ser22Cys
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.128C>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.148C>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.161C>G
  hgvsp: ENSP00000344652.6:p.Ser54Cys
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.65C>G
  hgvsp: ENSP00000447328.1:p.Ser22Cys
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2294
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30420
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3451
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12190
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ser22Cys
num of homozygotes: 0
population: African
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD

12-48491848-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491848
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491848
    reference: chr 12
allele count: 1
allele frequency: 8.619055006809053e-6
allele num: 116022
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.64T>C
  hgvsp: ENSP00000446681.1:p.Ser22Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.127T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.64T>C
  hgvsp: ENSP00000450076.1:p.Ser22Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.64T>C
  hgvsp: ENSP00000004980.5:p.Ser22Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.160T>C
  hgvsp: ENSP00000344652.6:p.Ser54Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.64T>C
  hgvsp: ENSP00000394791.1:p.Ser22Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.147T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.64T>C
  hgvsp: ENSP00000447328.1:p.Ser22Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.43T>C
  hgvsp: ENSP00000448597.1:p.Ser15Pro
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.64T>C
  hgvsp: ENSP00000447593.1:p.Ser22Pro
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30553
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 754
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12132
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3460
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4565
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4207
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser22Pro
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ

12-48491849-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491849
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491849
    reference: chr 12
allele count: 85
allele frequency: 7.327712546768047e-4
allele num: 115998
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.63C>T
  hgvsp: ENST00000448372.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.126C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.63C>T
  hgvsp: ENST00000552189.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.63C>T
  hgvsp: ENST00000004980.5:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.63C>T
  hgvsp: ENST00000549595.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.42C>T
  hgvsp: ENST00000551798.1:c.42C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.146C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.63C>T
  hgvsp: ENST00000551330.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.159C>T
  hgvsp: ENST00000339976.6:c.159C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.63C>T
  hgvsp: ENST00000549518.1:c.63C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12107
  bin: 2.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3453
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 30660
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2285
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4467
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 317
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 504
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2288
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn21Asn
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: DP

12-48491850-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491850
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491850
    reference: chr 12
allele count: 9
allele frequency: 7.758219402444701e-5
allele num: 116006
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.62A>G
  hgvsp: ENSP00000394791.1:p.Asn21Ser
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.125A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.62A>G
  hgvsp: ENSP00000446681.1:p.Asn21Ser
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.145A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.62A>G
  hgvsp: ENSP00000004980.5:p.Asn21Ser
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.62A>G
  hgvsp: ENSP00000447328.1:p.Asn21Ser
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.62A>G
  hgvsp: ENSP00000450076.1:p.Asn21Ser
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.41A>G
  hgvsp: ENSP00000448597.1:p.Asn14Ser
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.158A>G
  hgvsp: ENSP00000344652.6:p.Asn53Ser
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.62A>G
  hgvsp: ENSP00000447593.1:p.Asn21Ser
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12054
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3465
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30774
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 761
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asn21Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: T
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

12-48491851-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491851
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491851
    reference: chr 12
allele count: 1
allele frequency: 8.619352169490942e-6
allele num: 116018
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.61A>C
  hgvsp: ENSP00000447593.1:p.Asn21His
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.40A>C
  hgvsp: ENSP00000448597.1:p.Asn14His
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.61A>C
  hgvsp: ENSP00000394791.1:p.Asn21His
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.61A>C
  hgvsp: ENSP00000004980.5:p.Asn21His
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.157A>C
  hgvsp: ENSP00000344652.6:p.Asn53His
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.61A>C
  hgvsp: ENSP00000447328.1:p.Asn21His
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.61A>C
  hgvsp: ENSP00000446681.1:p.Asn21His
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.124A>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.61A>C
  hgvsp: ENSP00000450076.1:p.Asn21His
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.144A>C
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 758
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3461
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30813
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12067
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1514
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Asn21His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff

12-48491889-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491889
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491889
    reference: chr 12
allele count: 3
allele frequency: 2.592957527355702e-5
allele num: 115698
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.23T>C
  hgvsp: ENSP00000450076.1:p.Met8Thr
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.23T>C
  hgvsp: ENSP00000004980.5:p.Met8Thr
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.23T>C
  hgvsp: ENSP00000446681.1:p.Met8Thr
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.119T>C
  hgvsp: ENSP00000344652.6:p.Met40Thr
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.23T>C
  hgvsp: ENSP00000447593.1:p.Met8Thr
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: start_lost
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.2T>C
  hgvsp: ENSP00000448597.1:p.Met1?
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.23T>C
  hgvsp: ENSP00000394791.1:p.Met8Thr
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.23T>C
  hgvsp: ENSP00000447328.1:p.Met8Thr
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.86T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.106T>C
  variant of: http://identifiers.org/hgnc/17927
canonical: false
consequence: start lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32650
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2475
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13002
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met1?
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: A
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

12-48491893-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491893
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491893
    reference: chr 12
allele count: 1
allele frequency: 8.684626474215344e-6
allele num: 115146
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.19A>G
  hgvsp: ENSP00000447593.1:p.Arg7Gly
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.19A>G
  hgvsp: ENSP00000394791.1:p.Arg7Gly
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.19A>G
  hgvsp: ENSP00000004980.5:p.Arg7Gly
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.82A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.19A>G
  hgvsp: ENSP00000446681.1:p.Arg7Gly
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-3A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.19A>G
  hgvsp: ENSP00000447328.1:p.Arg7Gly
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.19A>G
  hgvsp: ENSP00000450076.1:p.Arg7Gly
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.115A>G
  hgvsp: ENSP00000344652.6:p.Arg39Gly
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.102A>G
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1503
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2289
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2733
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4101
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31527
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4002
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg7Gly
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ

12-48491899-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491899
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491899
    reference: chr 12
allele count: 2
allele frequency: 1.74076524039968e-5
allele num: 114892
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.13G>A
  hgvsp: ENSP00000450076.1:p.Ala5Thr
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.13G>A
  hgvsp: ENSP00000394791.1:p.Ala5Thr
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.96G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.76G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.13G>A
  hgvsp: ENSP00000446681.1:p.Ala5Thr
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.13G>A
  hgvsp: ENSP00000447328.1:p.Ala5Thr
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.13G>A
  hgvsp: ENSP00000004980.5:p.Ala5Thr
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-9G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.109G>A
  hgvsp: ENSP00000344652.6:p.Ala37Thr
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.13G>A
  hgvsp: ENSP00000447593.1:p.Ala5Thr
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 751
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4267
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31450
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13123
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ala5Thr
num of homozygotes: 0
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

12-48491909-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491909
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491909
    reference: chr 12
allele count: 1
allele frequency: 8.78394996662099e-6
allele num: 113844
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.5-2A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.5-2A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.5-2A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.5-2A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.5-2A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-17-2A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.5-2A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.101-2A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.68-2A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.88-2A>G
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29433
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12793
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 753
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
hgvs: c.5-2A>G
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

12-48491912-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491912
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491912
    reference: chr 12
allele count: 1
allele frequency: 8.820675663755844e-6
allele num: 113370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.101-5C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.68-5C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.5-5C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.5-5C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-17-5C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.5-5C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.5-5C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.5-5C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.5-5C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.88-5C>T
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7103
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3553
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28175
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.5e0
  variant carriers: 0
hgvs: c.5-5C>T
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP

12-48491924-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491924
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491924
    reference: chr 12
allele count: 1
allele frequency: 8.947585046795869e-6
allele num: 111762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.5-17C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-17-17C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.5-17C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.101-17C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.68-17C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.5-17C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.5-17C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.5-17C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.88-17C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.5-17C>T
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 741
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11549
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ

12-48491937-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491937
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491937
    reference: chr 12
allele count: 1
allele frequency: 9.075398409990198e-6
allele num: 110188
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.101-30G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-17-30G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.5-30G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.88-30G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.5-30G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.5-30G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.5-30G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.68-30G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.5-30G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.5-30G>C
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7684
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15516
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8131
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 403
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1811
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13018
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3998
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

12-48491940-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491940
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491940
    reference: chr 12
allele count: 1
allele frequency: 9.121923631255359e-6
allele num: 109626
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-17-33T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.101-33T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.5-33T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.5-33T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.5-33T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.5-33T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.5-33T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.68-33T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.5-33T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.88-33T>C
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10896
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12738
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4942
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 482
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6844
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17770
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7679
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

12-48491941-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491941
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491941
    reference: chr 12
allele count: 1
allele frequency: 9.126918934706022e-6
allele num: 109566
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.5-34A>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.5-34A>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.5-34A>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.5-34A>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-17-34A>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.101-34A>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.88-34A>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.5-34A>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.5-34A>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.68-34A>C
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10885
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6858
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13180
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

12-48491948-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491948
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491948
    reference: chr 12
allele count: 2
allele frequency: 1.870242570461389e-5
allele num: 106938
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.5-41A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.5-41A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.5-41A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.101-41A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.5-41A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.5-41A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.68-41A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.5-41A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.88-41A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-17-41A>G
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17208
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15318
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10543
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1314
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 1
population: South Asian
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP

12-48491955-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491955
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491955
    reference: chr 12
allele count: 5
allele frequency: 4.832785617630002e-5
allele num: 103460
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.5-48G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.5-48G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.68-48G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.88-48G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.5-48G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-17-48G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.101-48G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.5-48G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.5-48G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.5-48G>A
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 562
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16589
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15037
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7006
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3721
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 546
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11155
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4847
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

12-48491956-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48491956
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48491956
    reference: chr 12
allele count: 1
allele frequency: 9.731413001167769e-6
allele num: 102760
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-17-49C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.5-49C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.5-49C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.5-49C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.5-49C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.68-49C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.88-49C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.5-49C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.5-49C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.101-49C>T
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 544
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7087
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 750
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16563
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14998
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3840
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1227
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5177
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/12-48495208-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48495208
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48495208
    reference: chr 12
allele count: 1
allele frequency: 8.503401360544217e-6
allele num: 117600
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.4+44G>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.87+44G>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.4+44G>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.67+44G>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-110-2271G>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.4+44G>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.4+44G>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.100+44G>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.4+44G>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.4+44G>T
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 416
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

12-48495208-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48495208
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48495208
    reference: chr 12
allele count: 1
allele frequency: 8.503401360544217e-6
allele num: 117600
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.87+44G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.4+44G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.4+44G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.4+44G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-110-2271G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.4+44G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.4+44G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.4+44G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.100+44G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.67+44G>C
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25022
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16767
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3044
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7368
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1297
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2126
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

12-48495212-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48495212
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48495212
    reference: chr 12
allele count: 1
allele frequency: 8.505137102810097e-6
allele num: 117576
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.4+40A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.4+40A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.4+40A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.87+40A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.100+40A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-110-2275A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.4+40A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.4+40A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.67+40A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.4+40A>G
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2442
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7316
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 547
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1973
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25076
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17358
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1951
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: DP

12-48495214-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48495214
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48495214
    reference: chr 12
allele count: 1
allele frequency: 8.507307777380771e-6
allele num: 117546
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.4+38T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-110-2277T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.4+38T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.67+38T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.4+38T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.100+38T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.4+38T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.4+38T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.4+38T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.87+38T>C
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1963
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25135
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1842
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: MQ

12-48495223-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48495223
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48495223
    reference: chr 12
allele count: 41
allele frequency: 3.491739056378811e-4
allele num: 117420
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.4+29T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.4+29T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.100+29T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.4+29T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.4+29T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.87+29T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.4+29T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.67+29T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-110-2286T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.4+29T>C
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 18202
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1590
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1543
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7301
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25222
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2237
  bin: 9.75e1
  variant carriers: 41
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP

12-48495241-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48495241
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48495241
    reference: chr 12
allele count: 39
allele frequency: 3.333732241464791e-4
allele num: 116986
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-110-2304C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.87+11C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.4+11C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.100+11C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.4+11C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.67+11C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.4+11C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.4+11C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000450076
  ensembl transcript: ENST00000549595
  gene symbol: SENP1
  hgvsc: ENST00000549595.1:c.4+11C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.4+11C>T
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18765
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1814
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25524
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7253
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41128
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

12-48495266-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48495266
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48495266
    reference: chr 12
allele count: 1
allele frequency: 8.721285168582443e-6
allele num: 114662
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-11A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-11A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-11A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.73A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.53A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-11A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-110-2329A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.86A>G
  hgvsp: ENSP00000344652.6:p.Lys29Arg
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-11A>G
  variant of: http://identifiers.org/hgnc/17927
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7051
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2724
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17236
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6494
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39356
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys29Arg
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

12-48495274-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48495274
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48495274
    reference: chr 12
allele count: 2
allele frequency: 1.763046544428773e-5
allele num: 113440
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-19T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-19T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-19T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-19T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.78T>C
  hgvsp: ENST00000339976.6:c.78T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.45T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-110-2337T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.65T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-19T>C
  variant of: http://identifiers.org/hgnc/17927
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 864
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16386
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1501
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser26Ser
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

12-48495275-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48495275
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48495275
    reference: chr 12
allele count: 1
allele frequency: 8.847052162219548e-6
allele num: 113032
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-20G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-20G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.64G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.44G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.77G>A
  hgvsp: ENSP00000344652.6:p.Ser26Asn
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-20G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-20G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-20G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-110-2338G>A
  variant of: http://identifiers.org/hgnc/17927
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16127
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24347
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3736
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3692
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 862
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1484
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6100
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser26Asn
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

12-48495279-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48495279
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48495279
    reference: chr 12
allele count: 0
allele frequency: 0.0e0
allele num: 112406
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-24G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.40G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.60G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-110-2342G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.73G>A
  hgvsp: ENSP00000344652.6:p.Val25Ile
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-24G>A
  variant of: http://identifiers.org/hgnc/17927
canonical: false
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24017
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 858
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6835
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15776
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2155
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 862
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6133
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val25Ile
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

12-48495282-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48495282
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48495282
    reference: chr 12
allele count: 1
allele frequency: 8.972955512086571e-6
allele num: 111446
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-27A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-27A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-27A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.70A>G
  hgvsp: ENSP00000344652.6:p.Lys24Glu
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-27A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.37A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.57A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-27A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-110-2345A>G
  variant of: http://identifiers.org/hgnc/17927
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6727
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 532
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4445
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4907
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15091
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2156
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 852
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6070
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Lys24Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: T
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

12-48495289-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48495289
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48495289
    reference: chr 12
allele count: 1
allele frequency: 9.136592051164915e-6
allele num: 109450
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-34C>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-34C>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.63C>G
  hgvsp: ENSP00000344652.6:p.Ile21Met
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-110-2352C>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.50C>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-34C>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-34C>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-34C>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.30C>G
  variant of: http://identifiers.org/hgnc/17927
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13976
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2150
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ile21Met
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-48495296-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48495296
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48495296
    reference: chr 12
allele count: 1
allele frequency: 9.378047865556305e-6
allele num: 106632
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.23T>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.56T>G
  hgvsp: ENSP00000344652.6:p.Leu19Arg
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-41T>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-110-2359T>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-41T>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-41T>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-41T>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-41T>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.43T>G
  variant of: http://identifiers.org/hgnc/17927
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8945
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30864
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1445
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu19Arg
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: QD

12-48495296-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48495296
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48495296
    reference: chr 12
allele count: 1
allele frequency: 9.378047865556305e-6
allele num: 106632
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-41T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-41T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-41T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-110-2359T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-41T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.23T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-41T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.43T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.56T>C
  hgvsp: ENSP00000344652.6:p.Leu19Pro
  variant of: http://identifiers.org/hgnc/17927
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1419
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8945
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12103
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6678
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12731
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1216
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Leu19Pro
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

12-48495305-AAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48495305
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48495302
    reference: chr 12
allele count: 2
allele frequency: 1.945336056803813e-5
allele num: 102810
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-44-9_-44-7delCTT
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-44-9_-44-7delCTT
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-110-2371_-110-2369delCTT
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-44-9_-44-7delCTT
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-44-9_-44-7delCTT
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.20-9_20-7delCTT
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.40-9_40-7delCTT
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.53-9_53-7delCTT
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-44-9_-44-7delCTT
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1957
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8330
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13151
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17181
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 525
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 721
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 888
  bin: 3.75e1
  variant carriers: 0
hgvs: c.-44-9_-44-7delCTT
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: AAAG
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

12-48495313-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48495313
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48495313
    reference: chr 12
allele count: 6
allele frequency: 6.053635207942369e-5
allele num: 99114
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-44-14G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-44-14G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.20-14G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.40-14G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-110-2376G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.53-14G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-44-14G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-44-14G>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-44-14G>A
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18092
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9591
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1599
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 939
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12897
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7009
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 832
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3677
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2131
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 18950
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/12-48495319-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48495319
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48495318
    reference: chr 12
allele count: 1
allele frequency: 1.029802483883591e-5
allele num: 97106
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.20-21delG
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-44-21delG
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-44-21delG
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-44-21delG
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-110-2383delG
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.53-21delG
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.40-21delG
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-44-21delG
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-44-21delG
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10141
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20868
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3732
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1544
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5830
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22486
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15170
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1496
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: AC
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

12-48495332-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48495332
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48495332
    reference: chr 12
allele count: 1
allele frequency: 1.104240282685512e-5
allele num: 90560
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-44-33T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.53-33T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-44-33T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-110-2395T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-44-33T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.20-33T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-44-33T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-44-33T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.40-33T>C
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2669
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22844
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2721
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 807
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8397
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3476
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 639
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21473
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum

12-48495333-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48495333
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48495333
    reference: chr 12
allele count: 12
allele frequency: 1.32611338269422e-4
allele num: 90490
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-44-34A>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-44-34A>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.40-34A>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.20-34A>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.53-34A>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-44-34A>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-110-2396A>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-44-34A>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-44-34A>T
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 519
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8363
  bin: 1.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 11990
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2725
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22849
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 731
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6954
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1840
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

12-48499149-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48499149
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48499149
    reference: chr 12
allele count: 1
allele frequency: 8.868707651920962e-6
allele num: 112756
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-45+36C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.52+36C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000450369
  ensembl transcript: ENST00000550345
  gene symbol: PFKM
  hgvsc: ENST00000550345.1:c.-62G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-45+91C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.19+662C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-45+91C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-111+662C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.39+662C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-45+662C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-45+36C>T
  variant of: http://identifiers.org/hgnc/17927
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 956
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45677
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum

12-48499164-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48499164
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48499164
    reference: chr 12
allele count: 1
allele frequency: 8.867921181916535e-6
allele num: 112766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-111+647C>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-45+647C>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000450369
  ensembl transcript: ENST00000550345
  gene symbol: PFKM
  hgvsc: ENST00000550345.1:c.-47G>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.39+647C>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-45+21C>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.19+647C>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.52+21C>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-45+76C>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-45+21C>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-45+76C>G
  variant of: http://identifiers.org/hgnc/17927
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45677
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

12-48499165-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48499165
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48499165
    reference: chr 12
allele count: 2
allele frequency: 1.77355278093076e-5
allele num: 112768
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000450369
  ensembl transcript: ENST00000550345
  gene symbol: PFKM
  hgvsc: ENST00000550345.1:c.-46A>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-45+75T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-45+20T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-111+646T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.39+646T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-45+646T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.52+20T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.19+646T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-45+75T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-45+20T>C
  variant of: http://identifiers.org/hgnc/17927
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 951
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45677
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51448
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

12-48499166-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48499166
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48499166
    reference: chr 12
allele count: 1
allele frequency: 8.867763904653802e-6
allele num: 112768
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-45+74C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.39+645C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-45+19C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000450369
  ensembl transcript: ENST00000550345
  gene symbol: PFKM
  hgvsc: ENST00000550345.1:c.-45G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-45+645C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-45+74C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-111+645C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.52+19C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.19+645C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-45+19C>T
  variant of: http://identifiers.org/hgnc/17927
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 957
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45677
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1450
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

12-48499190-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48499190
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48499190
    reference: chr 12
allele count: 60
allele frequency: 5.320186561208746e-4
allele num: 112778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.39+621C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-45+621C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.47C>T
  hgvsp: ENSP00000344652.6:p.Pro16Leu
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000450369
  ensembl transcript: ENST00000550345
  gene symbol: PFKM
  hgvsc: ENST00000550345.1:c.-21G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-50C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-111+621C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.19+621C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-50C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-45+50C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-45+50C>T
  variant of: http://identifiers.org/hgnc/17927
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1055
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1068
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45686
  bin: 9.75e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 320
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro16Leu
num of homozygotes: 1
population: African
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

12-48499194-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48499194
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48499194
    reference: chr 12
allele count: 1
allele frequency: 8.867292106336567e-6
allele num: 112774
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-54T>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-45+46T>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000450369
  ensembl transcript: ENST00000550345
  gene symbol: PFKM
  hgvsc: ENST00000550345.1:c.-17A>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-111+617T>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-54T>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.43T>A
  hgvsp: ENSP00000344652.6:p.Ser15Thr
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.39+617T>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.19+617T>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-45+46T>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-45+617T>A
  variant of: http://identifiers.org/hgnc/17927
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45681
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser15Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: MQ

12-48499196-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48499196
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48499196
    reference: chr 12
allele count: 1
allele frequency: 8.86713485138682e-6
allele num: 112776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-111+615C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.41C>T
  hgvsp: ENSP00000344652.6:p.Ser14Leu
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-56C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.19+615C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-56C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-45+615C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-45+44C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000450369
  ensembl transcript: ENST00000550345
  gene symbol: PFKM
  hgvsc: ENST00000550345.1:c.-15G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-45+44C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.39+615C>T
  variant of: http://identifiers.org/hgnc/17927
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1062
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1056
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45681
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ser14Leu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP

12-48499197-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48499197
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48499197
    reference: chr 12
allele count: 43
allele frequency: 3.812935605724724e-4
allele num: 112774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000450369
  ensembl transcript: ENST00000550345
  gene symbol: PFKM
  hgvsc: ENST00000550345.1:c.-14A>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-111+614T>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-57T>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-57T>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-45+43T>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.19+614T>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.39+614T>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.40T>A
  hgvsp: ENSP00000344652.6:p.Ser14Thr
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-45+43T>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-45+614T>A
  variant of: http://identifiers.org/hgnc/17927
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45686
  bin: 9.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 947
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser14Thr
num of homozygotes: 1
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

12-48499212-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48499212
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48499212
    reference: chr 12
allele count: 2
allele frequency: 1.773395520402916e-5
allele num: 112778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000450369
  ensembl transcript: ENST00000550345
  gene symbol: PFKM
  hgvsc: ENST00000550345.1:c.-9+10T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-45+599A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-111+599A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.19+599A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-45+28A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.25A>G
  hgvsp: ENSP00000344652.6:p.Ile9Val
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-72A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.39+599A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-72A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-45+28A>G
  variant of: http://identifiers.org/hgnc/17927
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 936
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45685
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile9Val
num of homozygotes: 1
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: QD

12-48499213-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48499213
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48499213
    reference: chr 12
allele count: 1
allele frequency: 8.866977602014578e-6
allele num: 112778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-111+598A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-73A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-45+27A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.24A>G
  hgvsp: ENST00000339976.6:c.24A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-45+598A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.19+598A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.39+598A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-45+27A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-73A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000450369
  ensembl transcript: ENST00000550345
  gene symbol: PFKM
  hgvsc: ENST00000550345.1:c.-9+11T>C
  variant of: http://identifiers.org/hgnc/8877
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45685
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr8Thr
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

12-48499213-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48499213
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48499213
    reference: chr 12
allele count: 1
allele frequency: 8.866977602014578e-6
allele num: 112778
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-45+27A>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000450369
  ensembl transcript: ENST00000550345
  gene symbol: PFKM
  hgvsc: ENST00000550345.1:c.-9+11T>G
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.39+598A>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-111+598A>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-73A>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-45+598A>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.24A>C
  hgvsp: ENST00000339976.6:c.24A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-73A>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.19+598A>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-45+27A>C
  variant of: http://identifiers.org/hgnc/17927
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1060
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Thr8Thr
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

12-48499215-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48499215
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48499215
    reference: chr 12
allele count: 2
allele frequency: 1.773395520402916e-5
allele num: 112778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-45+25A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-45+596A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-45+25A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.39+596A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-75A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-75A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.22A>G
  hgvsp: ENSP00000344652.6:p.Thr8Ala
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-111+596A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.19+596A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000450369
  ensembl transcript: ENST00000550345
  gene symbol: PFKM
  hgvsc: ENST00000550345.1:c.-9+13T>C
  variant of: http://identifiers.org/hgnc/8877
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1531
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45685
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr8Ala
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

12-48499224-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48499224
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48499224
    reference: chr 12
allele count: 1
allele frequency: 8.866977602014578e-6
allele num: 112778
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-84T>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-45+587T>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.39+587T>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-45+16T>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.19+587T>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-84T>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-111+587T>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.13T>A
  hgvsp: ENSP00000344652.6:p.Leu5Ile
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000450369
  ensembl transcript: ENST00000550345
  gene symbol: PFKM
  hgvsc: ENST00000550345.1:c.-9+22A>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-45+16T>A
  variant of: http://identifiers.org/hgnc/17927
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1533
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Leu5Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum

12-48499227-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48499227
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48499227
    reference: chr 12
allele count: 1
allele frequency: 8.866977602014578e-6
allele num: 112778
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000450369
  ensembl transcript: ENST00000550345
  gene symbol: PFKM
  hgvsc: ENST00000550345.1:c.-9+25G>T
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.10C>A
  hgvsp: ENSP00000344652.6:p.Pro4Thr
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.39+584C>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-45+13C>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-87C>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-87C>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-111+584C>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.19+584C>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-45+584C>A
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-45+13C>A
  variant of: http://identifiers.org/hgnc/17927
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 976
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 766
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45685
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro4Thr
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/12-48499239-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48499239
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48499239
    reference: chr 12
allele count: 63
allele frequency: 5.586096825678312e-4
allele num: 112780
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.-3G>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.19+572G>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.39+572G>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-45+1G>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-99G>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-45+572G>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-111+572G>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-45+1G>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-99G>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000450369
  ensembl transcript: ENST00000550345
  gene symbol: PFKM
  hgvsc: ENST00000550345.1:c.-9+37C>A
  variant of: http://identifiers.org/hgnc/8877
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1039
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1002
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 45694
  bin: 9.75e1
  variant carriers: 58
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 882
  bin: 7.5e0
  variant carriers: 0
hgvs: c.-45+1G>T
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

12-48499245-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48499245
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48499245
    reference: chr 12
allele count: 9
allele frequency: 7.98056289570291e-5
allele num: 112774
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-105G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.39+566G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-105G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-50G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-45+566G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.-9G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-50G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.19+566G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-111+566G>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000450369
  ensembl transcript: ENST00000550345
  gene symbol: PFKM
  hgvsc: ENST00000550345.1:c.-9+43C>G
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45690
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum

12-48499247-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48499247
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48499247
    reference: chr 12
allele count: 1
allele frequency: 8.86713485138682e-6
allele num: 112776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000450369
  ensembl transcript: ENST00000550345
  gene symbol: PFKM
  hgvsc: ENST00000550345.1:c.-9+45G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-111+564C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.-11C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-107C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-45+564C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.39+564C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-107C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-52C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.19+564C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-52C>T
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45690
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1007
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1058
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD

12-48499248-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48499248
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48499248
    reference: chr 12
allele count: 1
allele frequency: 8.866977602014578e-6
allele num: 112778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.19+563C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-53C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-108C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-111+563C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-53C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-108C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.-12C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.39+563C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000450369
  ensembl transcript: ENST00000550345
  gene symbol: PFKM
  hgvsc: ENST00000550345.1:c.-9+46G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-45+563C>T
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45690
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1010
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/12-48499249-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48499249
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48499249
    reference: chr 12
allele count: 1
allele frequency: 8.866977602014578e-6
allele num: 112778
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000450369
  ensembl transcript: ENST00000550345
  gene symbol: PFKM
  hgvsc: ENST00000550345.1:c.-9+47A>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-54T>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.19+562T>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.39+562T>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.-13T>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-45+562T>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-109T>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-109T>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-54T>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-111+562T>G
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1530
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1023
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45690
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: A
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

12-48499252-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48499252
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48499252
    reference: chr 12
allele count: 3
allele frequency: 2.660234810059234e-5
allele num: 112772
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.19+559C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.-16C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-45+559C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-57C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000450369
  ensembl transcript: ENST00000550345
  gene symbol: PFKM
  hgvsc: ENST00000550345.1:c.-9+50G>A
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-111+559C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-112C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-57C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.39+559C>T
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-112C>T
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1020
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1484
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1035
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45692
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum

12-48499256-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48499256
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48499256
    reference: chr 12
allele count: 1
allele frequency: 8.867449366864115e-6
allele num: 112772
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.-20T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-61T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-116T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.19+555T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-116T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-45+555T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.39+555T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-61T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-111+555T>C
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000450369
  ensembl transcript: ENST00000550345
  gene symbol: PFKM
  hgvsc: ENST00000550345.1:c.-9+54A>G
  variant of: http://identifiers.org/hgnc/8877
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1529
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1038
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45691
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 414
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

12-48499263-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48499263
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48499263
    reference: chr 12
allele count: 1
allele frequency: 8.867921181916535e-6
allele num: 112766
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.39+548A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.19+548A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-45+548A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-123A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-123A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.-27A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-68A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000450369
  ensembl transcript: ENST00000550345
  gene symbol: PFKM
  hgvsc: ENST00000550345.1:c.-9+61T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-68A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-111+548A>G
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1059
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1073
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45691
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1480
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

12-48499272-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 48499272
    reference: chr 12
  end: Position
    type: ExactPosition
    position: 48499272
    reference: chr 12
allele count: 1
allele frequency: 8.868235753179262e-6
allele num: 112762
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000450369
  ensembl transcript: ENST00000550345
  gene symbol: PFKM
  hgvsc: ENST00000550345.1:c.-9+70T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000394791
  ensembl transcript: ENST00000448372
  gene symbol: SENP1
  hgvsc: ENST00000448372.1:c.-77A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000549882
  gene symbol: SENP1
  hgvsc: ENST00000549882.1:n.39+539A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl transcript: ENST00000547181
  gene symbol: SENP1
  hgvsc: ENST00000547181.1:n.19+539A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447593
  ensembl transcript: ENST00000552189
  gene symbol: SENP1
  hgvsc: ENST00000552189.1:c.-132A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000447328
  ensembl transcript: ENST00000549518
  gene symbol: SENP1
  hgvsc: ENST00000549518.1:c.-45+539A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000152556
  ensembl protein: ENSP00000449835
  ensembl transcript: ENST00000549003
  gene symbol: PFKM
  hgvsc: ENST00000549003.1:c.-237T>C
  variant of: http://identifiers.org/hgnc/8877
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000344652
  ensembl transcript: ENST00000339976
  gene symbol: SENP1
  hgvsc: ENST00000339976.6:c.-36A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000448597
  ensembl transcript: ENST00000551798
  gene symbol: SENP1
  hgvsc: ENST00000551798.1:c.-111+539A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000004980
  ensembl transcript: ENST00000004980
  gene symbol: SENP1
  hgvsc: ENST00000004980.5:c.-132A>G
  variant of: http://identifiers.org/hgnc/17927
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000079387
  ensembl protein: ENSP00000446681
  ensembl transcript: ENST00000551330
  gene symbol: SENP1
  hgvsc: ENST00000551330.1:c.-77A>G
  variant of: http://identifiers.org/hgnc/17927
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1483
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45691
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeDepth
all individuals: 436
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 514
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 713
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 585
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 572
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3996
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 917
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 911
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1049
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 638
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3506
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3888
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40965
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1040
bin: 7.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6452
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11002
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64110
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.442468754026543e-5
allele num: 15522
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 2.003e0

MQRankSum
type: SiteQuality
SIO_000300: -1.512e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.149999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.522023e6

VQSLOD
type: SiteQuality
SIO_000300: -1.324e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.575e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.425e1

GenotypeQuality
all individuals: 1238
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 408
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3797
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3682
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3998
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1050
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64230
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.196744853997128e-4
allele num: 8356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15548
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11038
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.56e0

FS
type: SiteQuality
SIO_000300: 3.4688e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.336e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.524719e6

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

GenotypeQuality
all individuals: 1238
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 843
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3797
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3998
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3682
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1391
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 247
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 895
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38165
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1050
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 350
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8356
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11038
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.547029702970297e-4
allele num: 6464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64230
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.4688e1

MQRankSum
type: SiteQuality
SIO_000300: 5.7e-1

DP
type: SiteQuality
SIO_000300: 1.524719e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 8.56e0

VQSLOD
type: SiteQuality
SIO_000300: -1.336e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.16e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.32e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-1

GenotypeQuality
all individuals: 202
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 201
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 472
bin: 8.25e1
variant carriers: 6

GenotypeQuality
all individuals: 882
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1090
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 3779
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 35464
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 230
bin: 7.5e0
variant carriers: 3

GenotypeQuality
all individuals: 1320
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2717
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1230
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1337
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 729
bin: 5.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1387
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3855
bin: 9.75e1
variant carriers: 751

GenotypeQuality
all individuals: 272
bin: 9.25e1
variant carriers: 7

GenotypeQuality
all individuals: 210
bin: 8.75e1
variant carriers: 11

GenotypeQuality
all individuals: 956
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 3232
bin: 6.75e1
variant carriers: 4

Latino
type: Population
allele count: 2
allele frequency: 1.852194850898315e-4
allele num: 10798
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 509
allele frequency: 8.4394482026794e-3
allele num: 60312
num of homozygotes: 0

East Asian
type: Population
allele count: 12
allele frequency: 1.470588235294118e-3
allele num: 8160
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.450780544445878e-5
allele num: 15502
num of homozygotes: 0

African
type: Population
allele count: 138
allele frequency: 1.624293785310734e-2
allele num: 8496
num of homozygotes: 0

Other
type: Population
allele count: 10
allele frequency: 1.275510204081633e-2
allele num: 784
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 137
allele frequency: 2.475605348753162e-2
allele num: 5534
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.35e0

MQ
type: SiteQuality
SIO_000300: 5.848e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.35e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e0

MQRankSum
type: SiteQuality
SIO_000300: -4.29e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.734e0

DP
type: SiteQuality
SIO_000300: 1.593939e6

FS
type: SiteQuality
SIO_000300: 2.73922e2

QD
type: SiteQuality
SIO_000300: 3.95e0

VQSLOD
type: SiteQuality
SIO_000300: -3.483e2

GenotypeQuality
all individuals: 4249
bin: 2.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2004
bin: 4.25e1
variant carriers: 3

GenotypeQuality
all individuals: 28439
bin: 6.25e1
variant carriers: 2

GenotypeQuality
all individuals: 783
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2576
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 641
bin: 7.25e1
variant carriers: 5

GenotypeQuality
all individuals: 587
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1951
bin: 2.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2188
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 512
bin: 7.5e0
variant carriers: 2

GenotypeQuality
all individuals: 650
bin: 1.25e1
variant carriers: 2

GenotypeQuality
all individuals: 1301
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 2311
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4111
bin: 9.75e1
variant carriers: 757

GenotypeQuality
all individuals: 2630
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 2359
bin: 6.75e1
variant carriers: 3

GenotypeQuality
all individuals: 207
bin: 8.75e1
variant carriers: 9

GenotypeQuality
all individuals: 274
bin: 9.25e1
variant carriers: 7

GenotypeQuality
all individuals: 2253
bin: 5.75e1
variant carriers: 3

European (Non-Finnish)
type: Population
allele count: 510
allele frequency: 8.343421784510682e-3
allele num: 61126
num of homozygotes: 0

East Asian
type: Population
allele count: 14
allele frequency: 1.75e-3
allele num: 8000
num of homozygotes: 0

African
type: Population
allele count: 139
allele frequency: 1.596600045945325e-2
allele num: 8706
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 135
allele frequency: 2.302968270214944e-2
allele num: 5862
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.598046978094485e-5
allele num: 15156
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.879078694817658e-4
allele num: 10420
num of homozygotes: 0

Other
type: Population
allele count: 10
allele frequency: 1.231527093596059e-2
allele num: 812
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.471e2

BaseQRankSum
type: SiteQuality
SIO_000300: -4.87e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.77e-2

MQ
type: SiteQuality
SIO_000300: 5.866e1

FS
type: SiteQuality
SIO_000300: 2.30681e2

MQRankSum
type: SiteQuality
SIO_000300: -4.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.77e0

QD
type: SiteQuality
SIO_000300: 4.93e0

DP
type: SiteQuality
SIO_000300: 1.559994e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.874e0

GenotypeQuality
all individuals: 208
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3988
bin: 9.75e1
variant carriers: 150

GenotypeQuality
all individuals: 189
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 1745
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34576
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1697
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1573
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 934
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1548
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3499
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4162
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1765
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 844
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1223
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 64
allele frequency: 1.003669667220776e-3
allele num: 63766
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 65
allele frequency: 1.021691292046526e-2
allele num: 6362
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10948
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.199904007679386e-4
allele num: 8334
num of homozygotes: 0

African
type: Population
allele count: 14
allele frequency: 1.513186338089062e-3
allele num: 9252
num of homozygotes: 0

Other
type: Population
allele count: 6
allele frequency: 7.058823529411765e-3
allele num: 850
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -2.008e2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.641e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.771e0

FS
type: SiteQuality
SIO_000300: 2.06107e2

MQRankSum
type: SiteQuality
SIO_000300: -4.26e-1

QD
type: SiteQuality
SIO_000300: 5.36e0

MQ
type: SiteQuality
SIO_000300: 5.872e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

DP
type: SiteQuality
SIO_000300: 1.543711e6

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

GenotypeQuality
all individuals: 52
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1524
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1548
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35527
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1021
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 735
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4008
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1671
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1001
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3743
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1724
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1533
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 910
bin: 7.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11032
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64310
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15576
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.1936022917164e-4
allele num: 8378
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.412e0

MQRankSum
type: SiteQuality
SIO_000300: -4.94e-1

DP
type: SiteQuality
SIO_000300: 1.537387e6

QD
type: SiteQuality
SIO_000300: 1.402e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.08e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

GenotypeQuality
all individuals: 950
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557292802192668e-5
allele num: 64214
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9340
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6464
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11024
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8386
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.436663233779608e-5
allele num: 15536
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-1

InbreedingCoeff
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SIO_000300: 2.1e-3

BaseQRankSum
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SIO_000300: -1.263e0

MQRankSum
type: SiteQuality
SIO_000300: -1.46e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.673e-1

FS
type: SiteQuality
SIO_000300: 8.55e-1

QD
type: SiteQuality
SIO_000300: 6.45e0

DP
type: SiteQuality
SIO_000300: 1.539442e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.39e-1

GenotypeQuality
all individuals: 1685
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11026
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9346
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.557050323866467e-5
allele num: 64224
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 6.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.59e-1

QD
type: SiteQuality
SIO_000300: 8.949999999999999e0

DP
type: SiteQuality
SIO_000300: 1.539782e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

MQRankSum
type: SiteQuality
SIO_000300: -5.21e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9346
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15530
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64224
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11026
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.21e-1

QD
type: SiteQuality
SIO_000300: 8.949999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 1.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.99e-1

FS
type: SiteQuality
SIO_000300: 6.54e-1

DP
type: SiteQuality
SIO_000300: 1.539782e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4006
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1410
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9342
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554919766140067e-5
allele num: 64312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6470
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15554
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.329e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.539255e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -2.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e0

QD
type: SiteQuality
SIO_000300: 1.328e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.318e0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554098156839586e-5
allele num: 64346
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11044
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15548
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6468
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.916e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

DP
type: SiteQuality
SIO_000300: 1.538868e6

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.92975685063682e-4
allele num: 15546
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.320185614849188e-3
allele num: 862
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 47
allele frequency: 7.257566399011736e-3
allele num: 6476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 33
allele frequency: 5.130437486396567e-4
allele num: 64322
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.964e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

QD
type: SiteQuality
SIO_000300: 1.387e1

ClippingRankSum
type: SiteQuality
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MQRankSum
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SIO_000300: 1.26e-1

InbreedingCoeff
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SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 5.16e-1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.54035e6

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 8
allele frequency: 9.519276534983341e-4
allele num: 8404
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15546
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.160092807424594e-3
allele num: 862
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64332
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11034
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

MQ
type: SiteQuality
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FS
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

ClippingRankSum
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 1.538909e6

VQSLOD
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SIO_000300: 2.2e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 953
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variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.554243083618278e-5
allele num: 64340
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15540
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6486
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11034
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8404
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

DP
type: SiteQuality
SIO_000300: 1.538847e6

VQSLOD
type: SiteQuality
SIO_000300: -2.029e0

FS
type: SiteQuality
SIO_000300: 1.3132e1

MQRankSum
type: SiteQuality
SIO_000300: -1.858e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.546e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

GenotypeQuality
all individuals: 233
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4424
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3497
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15492
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64098
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.55534486845224e-4
allele num: 8438
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9336
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10988
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 864
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.556239e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.91e-1

QD
type: SiteQuality
SIO_000300: 9.0e0

FS
type: SiteQuality
SIO_000300: 7.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.3e-2

GenotypeQuality
all individuals: 863
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 327
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variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15422
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6456
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8396
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9312
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.194556822361162e-5
allele num: 10876
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63826
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.33e0

VQSLOD
type: SiteQuality
SIO_000300: -2.116e0

QD
type: SiteQuality
SIO_000300: 1.163e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.48e0

MQRankSum
type: SiteQuality
SIO_000300: 1.59e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 1.374e0

DP
type: SiteQuality
SIO_000300: 1.546689e6

MQ
type: SiteQuality
SIO_000300: 5.834e1

GenotypeQuality
all individuals: 46
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4002
bin: 9.75e1
variant carriers: 2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 415
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3317
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 854
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15412
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8384
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.570450405176204e-5
allele num: 63676
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.553277415346381e-4
allele num: 6438
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10836
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.093e1

FS
type: SiteQuality
SIO_000300: 1.374e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.94e-1

DP
type: SiteQuality
SIO_000300: 1.544657e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 43
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 492
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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 4000
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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

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3175
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38405
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10702
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.084128360797918e-4
allele num: 9224
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 850
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63032
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15322
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6396
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.425e0

FS
type: SiteQuality
SIO_000300: 2.734e0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.49e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.114e0

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

DP
type: SiteQuality
SIO_000300: 1.515471e6

GenotypeQuality
all individuals: 230
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.5e0
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GenotypeQuality
all individuals: 1618
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15282
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.398496240601504e-5
allele num: 10640
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9196
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62752
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6360
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.027e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.056e0

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.98e-1

QD
type: SiteQuality
SIO_000300: 1.674e1

VQSLOD
type: SiteQuality
SIO_000300: -2.683e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.499981e6

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 702
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61852
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 836
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8180
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6294
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9088
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.628662335940607e-5
allele num: 15086
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.555e0

DP
type: SiteQuality
SIO_000300: 1.427522e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

QD
type: SiteQuality
SIO_000300: 8.029999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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GenotypeQuality
all individuals: 318
bin: 5.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9010
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6226
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14902
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.238850346878097e-4
allele num: 8072
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10242
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 1.319673e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.97e-1

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
all individuals: 1470
bin: 4.25e1
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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
all individuals: 17150
bin: 6.25e1
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GenotypeQuality
all individuals: 3997
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.113833815994654e-4
allele num: 8978
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6204
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8044
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14838
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.28432e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.8e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.519e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

FS
type: SiteQuality
SIO_000300: 2.199e0

MQRankSum
type: SiteQuality
SIO_000300: 8.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.657e-1

MQ
type: SiteQuality
SIO_000300: 5.777e1

GenotypeQuality
all individuals: 356
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 371
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4931
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3996
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.652018766933192e-5
allele num: 60532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10160
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6196
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8972
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14836
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.283991e6

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-2

FS
type: SiteQuality
SIO_000300: 3.388e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.045e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.21e-1

QD
type: SiteQuality
SIO_000300: 1.639e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9777
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.371365880416895e-4
allele num: 14584
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7898
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8836
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6108
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58880
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.52e-1

QD
type: SiteQuality
SIO_000300: 3.0e1

DP
type: SiteQuality
SIO_000300: 1.235156e6

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3998
bin: 9.75e1
variant carriers: 3

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5924
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.785493393308968e-5
allele num: 56912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9320
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7686
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14190
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.915e0

FS
type: SiteQuality
SIO_000300: 2.945e0

QD
type: SiteQuality
SIO_000300: 8.82e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQRankSum
type: SiteQuality
SIO_000300: -5.55e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.37e-1

MQ
type: SiteQuality
SIO_000300: 5.82e1

DP
type: SiteQuality
SIO_000300: 1.224189e6

GenotypeQuality
all individuals: 318
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9572
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 222
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
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variant carriers: 0

GenotypeQuality
all individuals: 3124
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3995
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.081782778018174e-4
allele num: 9244
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7600
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56500
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.970000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -1.093e0

DP
type: SiteQuality
SIO_000300: 1.223879e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.627e0

VQSLOD
type: SiteQuality
SIO_000300: -4.702e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7248
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9146
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.216585851050602e-5
allele num: 16086
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11216
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65216
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

DP
type: SiteQuality
SIO_000300: 1.587947e6

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

QD
type: SiteQuality
SIO_000300: 1.244e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 872
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variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9146
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16086
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11216
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533366045142296e-5
allele num: 65216
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.587947e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.48e-1

QD
type: SiteQuality
SIO_000300: 1.244e1

BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1092
bin: 4.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16074
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9134
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.533319022355791e-5
allele num: 65218
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 9.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.44e-1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 2.105e0

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.569e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.589876e6

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 398
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 832
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.175640724194686e-4
allele num: 8506
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9130
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65204
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16072
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.344e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.3e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -2.03e-1

DP
type: SiteQuality
SIO_000300: 1.590772e6

QD
type: SiteQuality
SIO_000300: 1.516e1

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
all individuals: 72
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.5e0
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1026
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39537
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65146
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11208
num of homozygotes: 0

East Asian
type: Population
allele count: 41
allele frequency: 4.822394730651611e-3
allele num: 8502
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9116
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16038
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.79e0

MQRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

FS
type: SiteQuality
SIO_000300: 1.292e0

QD
type: SiteQuality
SIO_000300: 1.36e1

MQ
type: SiteQuality
SIO_000300: 5.979e1

DP
type: SiteQuality
SIO_000300: 1.596251e6

GenotypeQuality
all individuals: 453
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
all individuals: 18
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2211
bin: 9.75e1
variant carriers: 39

GenotypeQuality
all individuals: 973
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2653
bin: 2.25e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6982
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 168
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 36
allele frequency: 3.981420039814201e-3
allele num: 9042
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.685765443151298e-4
allele num: 11170
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64926
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15974
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 868
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.163e1

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-1

DP
type: SiteQuality
SIO_000300: 1.598431e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.733e0

GenotypeQuality
all individuals: 1566
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 423
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variant carriers: 0

GenotypeQuality
all individuals: 586
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 368
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GenotypeQuality
all individuals: 21
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GenotypeQuality
all individuals: 101
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GenotypeQuality
all individuals: 4666
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2160
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variant carriers: 1

GenotypeQuality
all individuals: 442
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variant carriers: 0

GenotypeQuality
all individuals: 1489
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 4.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63618
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15678
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.132759401903036e-4
allele num: 8828
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10912
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.26e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 1.1272e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.51e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.784e0

QD
type: SiteQuality
SIO_000300: 1.161e1

DP
type: SiteQuality
SIO_000300: 1.566089e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e-1

GenotypeQuality
all individuals: 5781
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1421
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 4.75e1
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GenotypeQuality
all individuals: 38367
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variant carriers: 0

GenotypeQuality
all individuals: 2158
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variant carriers: 2

GenotypeQuality
all individuals: 63
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variant carriers: 0

GenotypeQuality
all individuals: 25
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variant carriers: 0

GenotypeQuality
all individuals: 145
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GenotypeQuality
all individuals: 632
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variant carriers: 0

GenotypeQuality
all individuals: 129
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GenotypeQuality
all individuals: 6295
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variant carriers: 0

GenotypeQuality
all individuals: 295
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GenotypeQuality
all individuals: 364
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variant carriers: 0

GenotypeQuality
all individuals: 369
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 439
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.278159213212098e-5
allele num: 10778
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8744
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15520
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.589420815054994e-5
allele num: 62916
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6372
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.054e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.03e-1

DP
type: SiteQuality
SIO_000300: 1.544575e6

VQSLOD
type: SiteQuality
SIO_000300: -1.889e-1

FS
type: SiteQuality
SIO_000300: 1.0927e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 5.958e1

GenotypeQuality
all individuals: 69
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 579
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variant carriers: 0

GenotypeQuality
all individuals: 788
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variant carriers: 0

GenotypeQuality
all individuals: 11
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GenotypeQuality
all individuals: 6247
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variant carriers: 0

GenotypeQuality
all individuals: 29
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variant carriers: 0

GenotypeQuality
all individuals: 675
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variant carriers: 0

GenotypeQuality
all individuals: 359
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GenotypeQuality
all individuals: 37666
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variant carriers: 0

GenotypeQuality
all individuals: 2156
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variant carriers: 1

GenotypeQuality
all individuals: 294
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GenotypeQuality
all individuals: 1412
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GenotypeQuality
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GenotypeQuality
all individuals: 877
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GenotypeQuality
all individuals: 401
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8716
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.461617989144482e-5
allele num: 15476
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8244
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62674
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.537592e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 5.928e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 6.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.08e0

VQSLOD
type: SiteQuality
SIO_000300: -5.946e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.398e0

QD
type: SiteQuality
SIO_000300: 7.06e0

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 463
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 736
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variant carriers: 0

GenotypeQuality
all individuals: 173
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GenotypeQuality
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GenotypeQuality
all individuals: 314
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GenotypeQuality
all individuals: 30
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GenotypeQuality
all individuals: 1364
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GenotypeQuality
all individuals: 6697
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GenotypeQuality
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GenotypeQuality
all individuals: 1422
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GenotypeQuality
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GenotypeQuality
all individuals: 37419
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variant carriers: 1

GenotypeQuality
all individuals: 356
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GenotypeQuality
all individuals: 282
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8668
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10646
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6320
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62340
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.525898e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.08e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.001e0

QD
type: SiteQuality
SIO_000300: 1.429e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.422e0

GenotypeQuality
all individuals: 842
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 984
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GenotypeQuality
all individuals: 35961
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GenotypeQuality
all individuals: 7655
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variant carriers: 0

GenotypeQuality
all individuals: 14
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GenotypeQuality
all individuals: 354
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GenotypeQuality
all individuals: 1402
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GenotypeQuality
all individuals: 38
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GenotypeQuality
all individuals: 192
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GenotypeQuality
all individuals: 1339
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GenotypeQuality
all individuals: 552
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 434
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 465
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.619275859835481e-5
allele num: 61756
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 828
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8134
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.507071e6

QD
type: SiteQuality
SIO_000300: 1.264e1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.54e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.82e-1

FS
type: SiteQuality
SIO_000300: 7.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

GenotypeQuality
all individuals: 174
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1241
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5634
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9602
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 304
bin: 4.75e1
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GenotypeQuality
all individuals: 1298
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GenotypeQuality
all individuals: 102
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1056
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 339
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GenotypeQuality
all individuals: 34348
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 5.25e1
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GenotypeQuality
all individuals: 1213
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6182
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7988
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60572
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.635700066357e-5
allele num: 15070
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.469354e6

FS
type: SiteQuality
SIO_000300: 6.807e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.5e-3

QD
type: SiteQuality
SIO_000300: 1.045e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

GenotypeQuality
all individuals: 30
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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bin: 5.75e1
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 622
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4885
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.652346331791143e-4
allele num: 6052
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14838
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58920
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7722
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.405445e6

VQSLOD
type: SiteQuality
SIO_000300: -1.024e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.9e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

FS
type: SiteQuality
SIO_000300: 1.1394e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 5.91e-1

QD
type: SiteQuality
SIO_000300: 1.382e1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6052
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.697216564833673e-5
allele num: 58920
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9970
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 792
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.91e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 8.9e-1

FS
type: SiteQuality
SIO_000300: 1.1394e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.97e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.024e0

QD
type: SiteQuality
SIO_000300: 1.382e1

DP
type: SiteQuality
SIO_000300: 1.405445e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 280
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.526839246667137e-5
allele num: 56708
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7390
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9418
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 764
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14556
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.7e-2

QD
type: SiteQuality
SIO_000300: 2.076e1

DP
type: SiteQuality
SIO_000300: 1.306972e6

VQSLOD
type: SiteQuality
SIO_000300: 1.44e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.209e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

MQ
type: SiteQuality
SIO_000300: 5.638e1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7118
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5718
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7806
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.120071684587814e-4
allele num: 8928
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 9.161200483711385e-5
allele num: 54578
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 726
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14240
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.654e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.1e-2

DP
type: SiteQuality
SIO_000300: 1.194698e6

QD
type: SiteQuality
SIO_000300: 9.9e0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.7e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 283
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 931
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8696
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6938
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.873571401806123e-5
allele num: 53374
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7682
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5618
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 710
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14088
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.93e0

MQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.2e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

DP
type: SiteQuality
SIO_000300: 1.122826e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.51e-1

QD
type: SiteQuality
SIO_000300: 2.609e1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.019059925698595e-5
allele num: 49528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13522
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7274
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7854
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5274
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.218e1

MQRankSum
type: SiteQuality
SIO_000300: 6.52e-1

FS
type: SiteQuality
SIO_000300: 6.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.5e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 9.8481e5

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 12

GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 678
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7280
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5260
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 2.424830261881668e-4
allele num: 49488
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.41e-1

DP
type: SiteQuality
SIO_000300: 9.83976e5

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.699999999999999e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.41e-1

QD
type: SiteQuality
SIO_000300: 1.131e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.41e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 5.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16208
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.62813415825464e-5
allele num: 61420
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8146
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.935e1

DP
type: SiteQuality
SIO_000300: 7.462587e6

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.13e-1

VQSLOD
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QD
type: SiteQuality
SIO_000300: 1.536e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.09e0

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 410
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 469
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 75
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8148
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.807468733485996e-5
allele num: 11354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16212
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8204
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.464549e6

VQSLOD
type: SiteQuality
SIO_000300: -4.445e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -9.379999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.352e1

MQ
type: SiteQuality
SIO_000300: 5.96e1

MQRankSum
type: SiteQuality
SIO_000300: 1.86e0

FS
type: SiteQuality
SIO_000300: 1.967e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.639999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

GenotypeQuality
all individuals: 582
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 471
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 160
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 71
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 825
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 607
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1588
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.255950249080194e-5
allele num: 61426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16212
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8204
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.029999999999999e0

VQSLOD
type: SiteQuality
SIO_000300: 6.870000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.3e-3

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 6.376e0

DP
type: SiteQuality
SIO_000300: 7.464674e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

QD
type: SiteQuality
SIO_000300: 1.414e1

GenotypeQuality
all individuals: 24
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 318
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 825
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 51448
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8148
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8204
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16212
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.627975124540097e-5
allele num: 61426
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.302e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

FS
type: SiteQuality
SIO_000300: 4.613e0

VQSLOD
type: SiteQuality
SIO_000300: 5.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.641e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.84e0

DP
type: SiteQuality
SIO_000300: 7.464766e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.45e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1657
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 863
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 578
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 51469
bin: 9.75e1
variant carriers: 59

GenotypeQuality
all individuals: 410
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

South Asian
type: Population
allele count: 60
allele frequency: 3.699593044765076e-3
allele num: 16218
num of homozygotes: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.299e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

DP
type: SiteQuality
SIO_000300: 7.470597e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

FS
type: SiteQuality
SIO_000300: 1.152e0

VQSLOD
type: SiteQuality
SIO_000300: 3.1e0

MQRankSum
type: SiteQuality
SIO_000300: 1.9e-2

MQ
type: SiteQuality
SIO_000300: 5.972e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.156e0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51453
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 865
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 582
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 322
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1661
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 411
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61428
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8148
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.807468733485996e-5
allele num: 11354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.733e0

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.37e0

VQSLOD
type: SiteQuality
SIO_000300: 9.62e-1

FS
type: SiteQuality
SIO_000300: 5.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 7.4667e6

QD
type: SiteQuality
SIO_000300: 1.309e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.077e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

GenotypeQuality
all individuals: 13
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 104
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variant carriers: 0

GenotypeQuality
all individuals: 322
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variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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GenotypeQuality
all individuals: 411
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 855
bin: 7.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 1.227295041728031e-4
allele num: 8148
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61430
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.989e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -5.96e-1

QD
type: SiteQuality
SIO_000300: 1.298e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.295e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.08e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

VQSLOD
type: SiteQuality
SIO_000300: -6.923e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 7.466777e6

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 112
bin: 2.5e0
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 51454
bin: 9.75e1
variant carriers: 42

GenotypeQuality
all individuals: 583
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61428
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.807468733485996e-5
allele num: 11354
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

African
type: Population
allele count: 42
allele frequency: 5.154639175257732e-3
allele num: 8148
num of homozygotes: 1

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.45e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.43e0

MQRankSum
type: SiteQuality
SIO_000300: 3.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.886e0

QD
type: SiteQuality
SIO_000300: 1.207e1

FS
type: SiteQuality
SIO_000300: 1.113e0

DP
type: SiteQuality
SIO_000300: 7.472629e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

GenotypeQuality
all individuals: 11
bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.255738238645613e-5
allele num: 61430
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.02e0

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-2

MQ
type: SiteQuality
SIO_000300: 5.92e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.04e0

FS
type: SiteQuality
SIO_000300: 2.694e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.63e-2

DP
type: SiteQuality
SIO_000300: 7.467692e6

VQSLOD
type: SiteQuality
SIO_000300: 1.34e-1

QD
type: SiteQuality
SIO_000300: 1.191e1

GenotypeQuality
all individuals: 1672
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 51455
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 59
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
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variant carriers: 0

GenotypeQuality
all individuals: 98
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GenotypeQuality
all individuals: 0
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 618
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.165988407941794e-5
allele num: 16218
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -4.79e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

DP
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SIO_000300: 7.46788e6

QD
type: SiteQuality
SIO_000300: 8.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.988e0

MQ
type: SiteQuality
SIO_000300: 5.845e1

GenotypeQuality
all individuals: 839
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
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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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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.807468733485996e-5
allele num: 11354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61430
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.04e-1

InbreedingCoeff
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SIO_000300: 8.9e-3

VQSLOD
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SIO_000300: -1.988e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -4.79e-1

MQ
type: SiteQuality
SIO_000300: 5.845e1

QD
type: SiteQuality
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BaseQRankSum
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SIO_000300: 1.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.34e-1

DP
type: SiteQuality
SIO_000300: 7.46788e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8150
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.255738238645613e-5
allele num: 61430
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQ
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SIO_000300: 5.974e1

BaseQRankSum
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SIO_000300: -8.38e-1

QD
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FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
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SIO_000300: 4.26e-1

DP
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SIO_000300: 7.468047e6

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61428
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

East Asian
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allele count: 1
allele frequency: 1.21921482565228e-4
allele num: 8202
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.958e1

QD
type: SiteQuality
SIO_000300: 1.232e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.68e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.097e0

DP
type: SiteQuality
SIO_000300: 7.468024e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

FS
type: SiteQuality
SIO_000300: 4.572e0

MQRankSum
type: SiteQuality
SIO_000300: -2.19e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

Other
type: Population
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: 8202
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.627922120205769e-5
allele num: 61428
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.956e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.545e0

MQRankSum
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SIO_000300: -2.719e0

ReadPosRankSum
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FS
type: SiteQuality
SIO_000300: 6.535e0

DP
type: SiteQuality
SIO_000300: 7.468096e6

ClippingRankSum
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SIO_000300: -2.241e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.326e0

QD
type: SiteQuality
SIO_000300: 9.43e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 842
num of homozygotes: 0

African
type: Population
allele count: 61
allele frequency: 7.482826300294406e-3
allele num: 8152
num of homozygotes: 0

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

Latino
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allele count: 2
allele frequency: 1.761493746697199e-4
allele num: 11354
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 61430
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
allele num: 16218
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

FS
type: SiteQuality
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ClippingRankSum
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QD
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BaseQRankSum
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

MQRankSum
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SIO_000300: 1.45e-1

DP
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SIO_000300: 7.474567e6

VQSLOD
type: SiteQuality
SIO_000300: 5.58e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

GenotypeQuality
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variant carriers: 9

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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allele count: 1
allele frequency: 1.226692836113837e-4
allele num: 8152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.302422505860901e-4
allele num: 61424
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele 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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MQ
type: SiteQuality
SIO_000300: 5.969e1

VQSLOD
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DP
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BaseQRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
type: SiteQuality
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QD
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ClippingRankSum
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SIO_000300: -2.7e-2

MQRankSum
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SIO_000300: 2.78e-1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1
allele frequency: 6.165988407941794e-5
allele num: 16218
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
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African
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allele frequency: 0.0e0
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East Asian
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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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FS
type: SiteQuality
SIO_000300: 1.399e0

ClippingRankSum
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SIO_000300: -7.22e-1

ReadPosRankSum
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DP
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MQRankSum
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BaseQRankSum
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MQ
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InbreedingCoeff
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QD
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.627975124540097e-5
allele num: 61426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: -8.56e-1

QD
type: SiteQuality
SIO_000300: 1.265e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.9e-2

DP
type: SiteQuality
SIO_000300: 7.468666e6

BaseQRankSum
type: SiteQuality
SIO_000300: -5.513e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

GenotypeQuality
all individuals: 4
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.627975124540097e-5
allele num: 61426
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 7.468686e6

VQSLOD
type: SiteQuality
SIO_000300: 1.17e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

FS
type: SiteQuality
SIO_000300: 5.590000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.378e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.798e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.53e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.02e-1

QD
type: SiteQuality
SIO_000300: 1.208e1

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
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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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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.807468733485996e-5
allele num: 11354
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.1667488899852e-5
allele num: 16216
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.226692836113837e-4
allele num: 8152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61424
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

MQRankSum
type: SiteQuality
SIO_000300: 3.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.01e-1

DP
type: SiteQuality
SIO_000300: 7.468714e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.936e0

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

FS
type: SiteQuality
SIO_000300: 5.96e-1

QD
type: SiteQuality
SIO_000300: 1.295e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.36e-1

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 839
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.628028132326127e-5
allele num: 61424
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

DP
type: SiteQuality
SIO_000300: 7.46854e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.4e0

VQSLOD
type: SiteQuality
SIO_000300: 1.17e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.23e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.964e1

QD
type: SiteQuality
SIO_000300: 7.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.29e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 12
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16216
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11354
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8202
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6582
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.628187176397799e-5
allele num: 61418
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.198e0

QD
type: SiteQuality
SIO_000300: 1.421e1

VQSLOD
type: SiteQuality
SIO_000300: -5.741000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-1

FS
type: SiteQuality
SIO_000300: 4.617e0

MQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: 5.85e-1

DP
type: SiteQuality
SIO_000300: 7.468189e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

GenotypeQuality
all individuals: 41
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0