http://identifiers.org/exac.variant/7-76240784-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240784
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240783
    reference: chr 7
allele count: 1
allele frequency: 1.245454092562148e-5
allele num: 80292
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.561delG
  hgvsp: ENSP00000309233.4:p.Ter188AsnfsTer76
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*215delG
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1253delG
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14453delC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14453delC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-4026delC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.370delG
  hgvsp: ENSP00000416963.1:p.Ter125AsnfsTer76
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35322delC
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35322delC
  variant of: http://identifiers.org/hgnc/21444
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4084
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12183
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ter188AsnfsTer76
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: AC
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

7-76240784-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240784
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240784
    reference: chr 7
allele count: 2
allele frequency: 2.490908185124296e-5
allele num: 80292
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-4027A>T
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.371T>A
  hgvsp: ENSP00000416963.1:p.Ter125LysextTer23
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*216T>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1252T>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14454A>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35323A>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35323A>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14454A>T
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.562T>A
  hgvsp: ENSP00000309233.4:p.Ter188LysextTer23
  variant of: http://identifiers.org/hgnc/9203
canonical: true
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5244
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6265
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8605
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3464
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12183
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11419
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2744
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ter188LysextTer23
num of homozygotes: 1
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-76240785-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240785
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240784
    reference: chr 7
allele count: 56841
allele frequency: 5.020668821877153e-1
allele num: 113214
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-4025delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1254delT
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.369delT
  hgvsp: ENSP00000416963.1:p.Leu124ArgfsTer77
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.560delT
  hgvsp: ENSP00000309233.4:p.Leu187ArgfsTer77
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*214delT
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35321delA
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14452delA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35321delA
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14452delA
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 2.5e0
  variant carriers: 256
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 5.75e1
  variant carriers: 2809
genotype depth: GenotypeDepth
  all individuals: 6150
  bin: 2.25e1
  variant carriers: 3050
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 3.75e1
  variant carriers: 2890
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 7.75e1
  variant carriers: 1658
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 8.25e1
  variant carriers: 1244
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 1.75e1
  variant carriers: 2711
genotype depth: GenotypeDepth
  all individuals: 2698
  bin: 9.75e1
  variant carriers: 2424
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 9.25e1
  variant carriers: 639
genotype depth: GenotypeDepth
  all individuals: 2649
  bin: 1.25e1
  variant carriers: 2296
genotype depth: GenotypeDepth
  all individuals: 3110
  bin: 5.25e1
  variant carriers: 2784
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 4.75e1
  variant carriers: 2661
genotype depth: GenotypeDepth
  all individuals: 9147
  bin: 2.75e1
  variant carriers: 3096
genotype depth: GenotypeDepth
  all individuals: 3195
  bin: 4.25e1
  variant carriers: 2613
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 7.5e0
  variant carriers: 1496
genotype depth: GenotypeDepth
  all individuals: 5754
  bin: 3.25e1
  variant carriers: 3122
genotype depth: GenotypeDepth
  all individuals: 2264
  bin: 7.25e1
  variant carriers: 2150
genotype depth: GenotypeDepth
  all individuals: 2652
  bin: 6.75e1
  variant carriers: 2506
genotype depth: GenotypeDepth
  all individuals: 3079
  bin: 6.25e1
  variant carriers: 2904
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 8.75e1
  variant carriers: 931
genotype quality: GenotypeQuality
  all individuals: 1056
  bin: 3.25e1
  variant carriers: 963
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 1.75e1
  variant carriers: 660
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 5.75e1
  variant carriers: 870
genotype quality: GenotypeQuality
  all individuals: 661
  bin: 5.25e1
  variant carriers: 611
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.5e0
  variant carriers: 376
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 3.75e1
  variant carriers: 665
hgvs: p.Leu187ArgfsTer77
num of homozygotes: 15407
population: Latino
population: Other
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
reference allele: CA
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP

7-76240786-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240786
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240786
    reference: chr 7
allele count: 1
allele frequency: 3.298805832288711e-5
allele num: 30314
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35321A>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35321A>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*214T>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.369T>A
  hgvsp: ENSP00000416963.1:p.Leu124Gln
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14452A>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.560T>A
  hgvsp: ENSP00000309233.4:p.Leu187Gln
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-4025A>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14452A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1254T>A
  variant of: http://identifiers.org/hgnc/9203
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8477
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 367
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu187Gln
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
reference allele: A
site quality: MQ
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-76240786-AG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240786
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240785
    reference: chr 7
allele count: 1
allele frequency: 3.298805832288711e-5
allele num: 30314
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.368delC
  hgvsp: ENSP00000416963.1:p.Leu124CysfsTer77
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35318delG
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14449delG
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.559delC
  hgvsp: ENSP00000309233.4:p.Leu187CysfsTer77
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1255delC
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35318delG
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14449delG
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*213delC
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-4022delG
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6061
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2614
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 802
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1920
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Leu187CysfsTer77
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: AG
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

7-76240789-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240789
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240789
    reference: chr 7
allele count: 2
allele frequency: 1.702852277564921e-5
allele num: 117450
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-4022G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.366C>T
  hgvsp: ENSP00000416963.1:p.Ser123Phe
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35318G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35318G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14449G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1257C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.557C>T
  hgvsp: ENSP00000309233.4:p.Ser186Phe
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14449G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*211C>T
  variant of: http://identifiers.org/hgnc/9203
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9051
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6027
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2366
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31629
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser186Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP

7-76240791-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240791
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240791
    reference: chr 7
allele count: 2
allele frequency: 1.701374710766299e-5
allele num: 117552
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14447A>G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14447A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.555T>C
  hgvsp: ENST00000310842.4:c.555T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-4020A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35316A>G
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.364T>C
  hgvsp: ENST00000441393.1:c.364T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*209T>C
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1259T>C
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35316A>G
  variant of: http://identifiers.org/hgnc/21444
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3932
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5668
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6626
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9078
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1748
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1140
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31635
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 510
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala185Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

7-76240792-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240792
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240792
    reference: chr 7
allele count: 1
allele frequency: 8.506439374606578e-6
allele num: 117558
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35315G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.554C>T
  hgvsp: ENSP00000309233.4:p.Ala185Val
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.363C>T
  hgvsp: ENSP00000416963.1:p.Ala122Val
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14446G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*208C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14446G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-4019G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1260C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35315G>A
  variant of: http://identifiers.org/hgnc/21444
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9108
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6846
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5691
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3037
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1511
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2295
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3933
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3242
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3440
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 757
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ala185Val
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum

7-76240797-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240797
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240797
    reference: chr 7
allele count: 2
allele frequency: 1.698658060132495e-5
allele num: 117740
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.358G>A
  hgvsp: ENST00000441393.1:c.358G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-4014C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.549G>A
  hgvsp: ENST00000310842.4:c.549G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14441C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35310C>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1265G>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14441C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35310C>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*203G>A
  variant of: http://identifiers.org/hgnc/9203
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1747
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1989
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3244
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3038
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8156
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9243
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2323
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5803
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3942
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1553
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2923
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3777
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr183Thr
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: QD

7-76240798-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240798
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240798
    reference: chr 7
allele count: 1
allele frequency: 8.506149946411256e-6
allele num: 117562
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14440G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35309G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14440G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*202C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35309G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.548C>T
  hgvsp: ENSP00000309233.4:p.Thr183Met
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.357C>T
  hgvsp: ENSP00000416963.1:p.Thr120Met
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-4013G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1266C>T
  variant of: http://identifiers.org/hgnc/9203
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9227
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8270
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr183Met
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: ReadPosRankSum

7-76240798-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240798
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240798
    reference: chr 7
allele count: 709
allele frequency: 6.03086031200558e-3
allele num: 117562
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35309G>C
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14440G>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*202C>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.548C>G
  hgvsp: ENSP00000309233.4:p.Thr183Arg
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35309G>C
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.357C>G
  hgvsp: ENSP00000416963.1:p.Thr120Arg
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14440G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-4013G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1266C>G
  variant of: http://identifiers.org/hgnc/9203
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 5.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 6.25e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9227
  bin: 2.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 1292
  bin: 7.5e0
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 5798
  bin: 3.25e1
  variant carriers: 76
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 8.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 8270
  bin: 2.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 1485
  bin: 1.25e1
  variant carriers: 36
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 3.75e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 1.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 5.75e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 7.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 2968
  bin: 9.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 2851
  bin: 6.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 3283
  bin: 4.75e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 4.25e1
  variant carriers: 66
genotype depth: GenotypeDepth
  all individuals: 2353
  bin: 7.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 8.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 1954
  bin: 7.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 7.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.5e0
  variant carriers: 11
hgvs: p.Thr183Arg
num of homozygotes: 36
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/7-76240803-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240803
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240803
    reference: chr 7
allele count: 2
allele frequency: 1.688675740484312e-5
allele num: 118436
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14435C>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.543G>T
  hgvsp: ENSP00000309233.4:p.Trp181Cys
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*197G>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.352G>T
  hgvsp: ENSP00000416963.1:p.Trp118Cys
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-4008C>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35304C>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1271G>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14435C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35304C>A
  variant of: http://identifiers.org/hgnc/21444
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5879
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1131
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9391
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3967
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3479
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14375
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Trp181Cys
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: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

7-76240806-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240806
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240806
    reference: chr 7
allele count: 1
allele frequency: 8.421194462222522e-6
allele num: 118748
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14432C>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14432C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.540G>C
  hgvsp: ENSP00000309233.4:p.Gln180His
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*194G>C
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1274G>C
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35301C>G
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-4005C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35301C>G
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.349G>C
  hgvsp: ENSP00000416963.1:p.Gln117His
  variant of: http://identifiers.org/hgnc/9203
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5919
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3098
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1014
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1575
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3483
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1025
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2035
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln180His
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

7-76240809-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240809
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240809
    reference: chr 7
allele count: 11
allele frequency: 9.238573564241681e-5
allele num: 119066
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35298G>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.346C>A
  hgvsp: ENSP00000416963.1:p.Ser116Arg
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14429G>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14429G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1277C>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*191C>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.537C>A
  hgvsp: ENSP00000309233.4:p.Ser179Arg
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35298G>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-4002G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9724
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 870
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2974
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3973
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9566
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1578
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5958
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser179Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

7-76240812-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240812
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240812
    reference: chr 7
allele count: 2
allele frequency: 1.67464916100077e-5
allele num: 119428
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14426C>G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*188G>C
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.343G>C
  hgvsp: ENST00000441393.1:c.343G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35295C>G
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1280G>C
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.534G>C
  hgvsp: ENST00000310842.4:c.534G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3999C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35295C>G
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14426C>G
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9900
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val178Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQ

7-76240812-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240812
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240812
    reference: chr 7
allele count: 1
allele frequency: 8.373245805003851e-6
allele num: 119428
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3999C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.343G>A
  hgvsp: ENST00000441393.1:c.343G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14426C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35295C>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*188G>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14426C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.534G>A
  hgvsp: ENST00000310842.4:c.534G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35295C>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1280G>A
  variant of: http://identifiers.org/hgnc/9203
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3975
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9900
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9656
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6006
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2056
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15327
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val178Val
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/7-76240814-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240814
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240814
    reference: chr 7
allele count: 1
allele frequency: 8.364001338240215e-6
allele num: 119560
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.532G>T
  hgvsp: ENSP00000309233.4:p.Val178Leu
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.341G>T
  hgvsp: ENSP00000416963.1:p.Val115Leu
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1282G>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35293C>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*186G>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14424C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14424C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3997C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35293C>A
  variant of: http://identifiers.org/hgnc/21444
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1789
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31948
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val178Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

7-76240814-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240814
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240814
    reference: chr 7
allele count: 8
allele frequency: 6.691201070592172e-5
allele num: 119560
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35293C>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.532G>A
  hgvsp: ENSP00000309233.4:p.Val178Met
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35293C>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14424C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3997C>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*186G>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14424C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.341G>A
  hgvsp: ENSP00000416963.1:p.Val115Met
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1282G>A
  variant of: http://identifiers.org/hgnc/9203
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9906
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3978
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3490
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9729
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3059
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2853
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val178Met
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: C
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum

7-76240815-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240815
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240815
    reference: chr 7
allele count: 52
allele frequency: 4.342452483548786e-4
allele num: 119748
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14423G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35292G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.531C>T
  hgvsp: ENST00000310842.4:c.531C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1283C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.340C>T
  hgvsp: ENST00000441393.1:c.340C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14423G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*185C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35292G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3996G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9774
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1577
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2983
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3484
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6067
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9934
  bin: 2.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val177Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

7-76240817-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240817
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240817
    reference: chr 7
allele count: 6
allele frequency: 5.00617428161399e-5
allele num: 119852
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.529G>A
  hgvsp: ENSP00000309233.4:p.Val177Ile
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14421C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3994C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35290C>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35290C>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.338G>A
  hgvsp: ENSP00000416963.1:p.Val114Ile
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*183G>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1285G>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14421C>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3488
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6084
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3985
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9946
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2345
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2980
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1576
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9819
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1483
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val177Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

7-76240819-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240819
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240819
    reference: chr 7
allele count: 69
allele frequency: 5.758926335820522e-4
allele num: 119814
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.527G>A
  hgvsp: ENSP00000309233.4:p.Arg176His
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35288C>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14419C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1287G>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14419C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.336G>A
  hgvsp: ENSP00000416963.1:p.Arg113His
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*181G>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3992C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35288C>T
  variant of: http://identifiers.org/hgnc/21444
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 811
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3511
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3064
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 9809
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 4.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 2026
  bin: 7.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1155
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3108
  bin: 6.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2352
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 9.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 8.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 5.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.75e1
  variant carriers: 3
hgvs: p.Arg176His
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

7-76240820-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240820
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240820
    reference: chr 7
allele count: 4
allele frequency: 3.333333333333333e-5
allele num: 120000
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.526C>T
  hgvsp: ENSP00000309233.4:p.Arg176Cys
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14418G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.335C>T
  hgvsp: ENSP00000416963.1:p.Arg113Cys
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1288C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35287G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14418G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*180C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35287G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3991G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9906
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3991
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3153
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6122
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15585
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Arg176Cys
num of homozygotes: 1
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: DP

7-76240824-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240824
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240824
    reference: chr 7
allele count: 1
allele frequency: 8.329585020074299e-6
allele num: 120054
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*176G>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14414C>T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.331G>A
  hgvsp: ENST00000441393.1:c.331G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1292G>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.522G>A
  hgvsp: ENST00000310842.4:c.522G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35283C>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3987C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14414C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35283C>T
  variant of: http://identifiers.org/hgnc/21444
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3499
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9946
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3061
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32006
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 15523
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gln174Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD

7-76240827-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240827
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240827
    reference: chr 7
allele count: 1
allele frequency: 8.328197611472925e-6
allele num: 120074
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35280C>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*173G>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.519G>A
  hgvsp: ENST00000310842.4:c.519G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14411C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35280C>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.328G>A
  hgvsp: ENST00000441393.1:c.328G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3984C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14411C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1295G>A
  variant of: http://identifiers.org/hgnc/9203
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3500
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9973
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3062
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6133
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9755
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15511
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32005
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg173Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: African
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/7-76240830-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240830
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240830
    reference: chr 7
allele count: 1
allele frequency: 8.327504080476999e-6
allele num: 120084
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35277C>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.516G>T
  hgvsp: ENSP00000309233.4:p.Arg172Ser
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35277C>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*170G>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3981C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14408C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.325G>T
  hgvsp: ENSP00000416963.1:p.Arg109Ser
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14408C>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1298G>T
  variant of: http://identifiers.org/hgnc/9203
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2347
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9718
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6132
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2858
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3150
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3498
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2093
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4106
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32005
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Arg172Ser
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-76240834-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240834
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240834
    reference: chr 7
allele count: 1
allele frequency: 8.327642777435419e-6
allele num: 120082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1302C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35273G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14404G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.321C>T
  hgvsp: ENSP00000416963.1:p.Ser108Phe
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.512C>T
  hgvsp: ENSP00000309233.4:p.Ser171Phe
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14404G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*166C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3977G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35273G>A
  variant of: http://identifiers.org/hgnc/21444
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3505
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9540
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3990
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9950
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6157
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser171Phe
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
reference allele: G
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-76240838-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240838
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240838
    reference: chr 7
allele count: 1
allele frequency: 8.32514693884347e-6
allele num: 120118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1306C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3973G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14400G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*162C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.508C>T
  hgvsp: ENSP00000309233.4:p.His170Tyr
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35269G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.317C>T
  hgvsp: ENSP00000416963.1:p.His107Tyr
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35269G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14400G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9983
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 299
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3501
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3104
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3983
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3149
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3063
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15376
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4036
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
hgvs: p.His170Tyr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-76240840-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240840
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240840
    reference: chr 7
allele count: 1
allele frequency: 8.326533331112925e-6
allele num: 120098
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.315G>T
  hgvsp: ENSP00000416963.1:p.Ser106Ile
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35267C>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*160G>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14398C>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14398C>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.506G>T
  hgvsp: ENSP00000309233.4:p.Ser169Ile
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1308G>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35267C>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3971C>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3984
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2857
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9993
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6160
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15389
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser169Ile
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: QD

7-76240846-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240846
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240846
    reference: chr 7
allele count: 1
allele frequency: 8.325978718798394e-6
allele num: 120106
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.309C>G
  hgvsp: ENSP00000416963.1:p.Thr104Ser
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.500C>G
  hgvsp: ENSP00000309233.4:p.Thr167Ser
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14392G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1314C>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35261G>C
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*154C>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35261G>C
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3965G>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14392G>C
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6168
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2988
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10051
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3145
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15469
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1533
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Thr167Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum

7-76240852-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240852
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240852
    reference: chr 7
allele count: 6
allele frequency: 4.995504046358277e-5
allele num: 120108
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14386C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.494G>C
  hgvsp: ENSP00000309233.4:p.Cys165Ser
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14386C>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35255C>G
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35255C>G
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.303G>C
  hgvsp: ENSP00000416963.1:p.Cys102Ser
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*148G>C
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3959C>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1320G>C
  variant of: http://identifiers.org/hgnc/9203
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2341
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10080
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3478
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2990
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3296
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15423
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Cys165Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum

7-76240854-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240854
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240854
    reference: chr 7
allele count: 1
allele frequency: 8.327504080476999e-6
allele num: 120084
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1322C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.301C>T
  hgvsp: ENST00000441393.1:c.301C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35253G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*146C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35253G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14384G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.492C>T
  hgvsp: ENST00000310842.4:c.492C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14384G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3957G>A
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9220
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4013
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Asp164Asp
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

7-76240856-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240856
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240856
    reference: chr 7
allele count: 1
allele frequency: 8.328891257995735e-6
allele num: 120064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.299G>A
  hgvsp: ENSP00000416963.1:p.Asp101Asn
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14382C>T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14382C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3955C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35251C>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1324G>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*144G>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35251C>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.490G>A
  hgvsp: ENSP00000309233.4:p.Asp164Asn
  variant of: http://identifiers.org/hgnc/9203
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9180
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10097
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6171
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2024
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4015
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1474
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1531
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Asp164Asn
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

7-76240862-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240862
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240862
    reference: chr 7
allele count: 1
allele frequency: 8.331805835596807e-6
allele num: 120022
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.293A>G
  hgvsp: ENSP00000416963.1:p.Lys99Glu
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35245T>C
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.484A>G
  hgvsp: ENSP00000309233.4:p.Lys162Glu
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3949T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14376T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1330A>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14376T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*138A>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35245T>C
  variant of: http://identifiers.org/hgnc/21444
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8975
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10115
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3966
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15088
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys162Glu
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: T
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-76240866-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240866
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240866
    reference: chr 7
allele count: 1
allele frequency: 8.335278231587371e-6
allele num: 119972
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1334T>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*134T>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35241A>C
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35241A>C
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.480T>G
  hgvsp: ENSP00000309233.4:p.Cys160Trp
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14372A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3945A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14372A>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.289T>G
  hgvsp: ENSP00000416963.1:p.Cys97Trp
  variant of: http://identifiers.org/hgnc/9203
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10093
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3102
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6158
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3474
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2342
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8689
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31988
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Cys160Trp
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ClippingRankSum

7-76240869-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240869
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240869
    reference: chr 7
allele count: 5
allele frequency: 4.167222296306174e-5
allele num: 119984
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.477C>T
  hgvsp: ENST00000310842.4:c.477C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3942G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35238G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*131C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35238G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14369G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.286C>T
  hgvsp: ENST00000441393.1:c.286C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1337C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14369G>A
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3477
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10109
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3147
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2344
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6164
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys159Cys
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ

7-76240873-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240873
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240873
    reference: chr 7
allele count: 3
allele frequency: 2.501292334372759e-5
allele num: 119938
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35234T>C
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.473A>G
  hgvsp: ENSP00000309233.4:p.Gln158Arg
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35234T>C
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*127A>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14365T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.282A>G
  hgvsp: ENSP00000416963.1:p.Gln95Arg
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3938T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14365T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1341A>G
  variant of: http://identifiers.org/hgnc/9203
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3058
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8508
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3968
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3290
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1582
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2992
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2028
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3904
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14533
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln158Arg
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

7-76240874-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240874
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240873
    reference: chr 7
allele count: 1
allele frequency: 8.339170752860335e-6
allele num: 119916
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*125delT
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35232delA
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3936delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35232delA
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.471delT
  hgvsp: ENSP00000309233.4:p.Gln158AsnfsTer21
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14363delA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.280delT
  hgvsp: ENSP00000416963.1:p.Gln95AsnfsTer21
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14363delA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1343delT
  variant of: http://identifiers.org/hgnc/9203
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2854
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1583
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3057
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9974
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6152
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2991
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31982
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2026
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1452
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gln158AsnfsTer21
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: GA
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-76240877-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240877
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240877
    reference: chr 7
allele count: 2249
allele frequency: 1.877264152518322e-2
allele num: 119802
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14361A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35230A>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.278T>A
  hgvsp: ENSP00000416963.1:p.Cys94Ser
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1345T>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.469T>A
  hgvsp: ENSP00000309233.4:p.Cys157Ser
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14361A>T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*123T>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3934A>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35230A>T
  variant of: http://identifiers.org/hgnc/21444
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3965
  bin: 9.75e1
  variant carriers: 1288
genotype depth: GenotypeDepth
  all individuals: 646
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2981
  bin: 5.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 840
  bin: 9.25e1
  variant carriers: 70
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 6.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 518
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 4.25e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 4.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 8383
  bin: 2.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 6048
  bin: 3.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 2280
  bin: 7.25e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 1144
  bin: 8.75e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 9806
  bin: 2.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 3051
  bin: 5.25e1
  variant carriers: 57
genotype depth: GenotypeDepth
  all individuals: 2998
  bin: 6.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 3896
  bin: 3.75e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 1555
  bin: 8.25e1
  variant carriers: 67
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.75e1
  variant carriers: 62
genotype quality: GenotypeQuality
  all individuals: 3792
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 2.25e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1736
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1403
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 2.75e1
  variant carriers: 9
hgvs: p.Cys157Ser
num of homozygotes: 194
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

7-76240878-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240878
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240878
    reference: chr 7
allele count: 1
allele frequency: 8.34599142032082e-6
allele num: 119818
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35229G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*122C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.277C>T
  hgvsp: ENST00000441393.1:c.277C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14360G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14360G>A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.468C>T
  hgvsp: ENST00000310842.4:c.468C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35229G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3933G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1346C>T
  variant of: http://identifiers.org/hgnc/9203
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2995
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10058
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8499
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3467
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile156Ile
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum

7-76240879-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240879
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240879
    reference: chr 7
allele count: 3
allele frequency: 2.503755633450175e-5
allele num: 119820
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35228A>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*121T>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.276T>A
  hgvsp: ENSP00000416963.1:p.Ile93Asn
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3932A>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14359A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1347T>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14359A>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.467T>A
  hgvsp: ENSP00000309233.4:p.Ile156Asn
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35228A>T
  variant of: http://identifiers.org/hgnc/21444
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8496
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3470
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2031
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3864
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ile156Asn
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP

7-76240885-GCCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240885
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240882
    reference: chr 7
allele count: 1
allele frequency: 8.363861427543869e-6
allele num: 119562
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*112_*114delTGG
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35221_*206-35219delCCA
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1356_346-1354delTGG
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.267_269delTGG
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14352_605-14350delCCA
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14352_606-14350delCCA
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.458_460delTGG
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35221_*253-35219delCCA
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3925_306-3923delCCA
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2271
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3054
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3399
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2969
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu153_Ala154delinsPro
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: GCCA
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

7-76240887-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240887
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240887
    reference: chr 7
allele count: 1
allele frequency: 8.360365180751095e-6
allele num: 119612
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1355G>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14351C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3924C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35220C>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*113G>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35220C>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.268G>A
  hgvsp: ENST00000441393.1:c.268G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.459G>A
  hgvsp: ENST00000310842.4:c.459G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14351C>T
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1123
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6395
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10471
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2763
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1549
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3469
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3400
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2994
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1985
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7841
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2039
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu153Leu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP

7-76240888-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240888
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240888
    reference: chr 7
allele count: 61642
allele frequency: 5.228861292073833e-1
allele num: 117888
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35219A>G
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.458T>C
  hgvsp: ENSP00000309233.4:p.Leu153Pro
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35219A>G
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14350A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1356T>C
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.267T>C
  hgvsp: ENSP00000416963.1:p.Leu90Pro
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*112T>C
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14350A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3923A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 79
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 4.75e1
  variant carriers: 2151
genotype depth: GenotypeDepth
  all individuals: 4565
  bin: 2.25e1
  variant carriers: 1388
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 7.75e1
  variant carriers: 1172
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 3.25e1
  variant carriers: 1776
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 6.75e1
  variant carriers: 1389
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 8.75e1
  variant carriers: 1145
genotype depth: GenotypeDepth
  all individuals: 7964
  bin: 2.75e1
  variant carriers: 1614
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 5.75e1
  variant carriers: 1918
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 8.25e1
  variant carriers: 1117
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 6.25e1
  variant carriers: 1703
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.5e0
  variant carriers: 409
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 1.75e1
  variant carriers: 1112
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 5.25e1
  variant carriers: 2065
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.25e1
  variant carriers: 749
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 4.25e1
  variant carriers: 2074
genotype depth: GenotypeDepth
  all individuals: 19481
  bin: 9.75e1
  variant carriers: 19074
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 9.25e1
  variant carriers: 1130
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 3.75e1
  variant carriers: 1936
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 7.25e1
  variant carriers: 1371
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 4.75e1
  variant carriers: 574
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.5e0
  variant carriers: 181
genotype quality: GenotypeQuality
  all individuals: 1192
  bin: 7.75e1
  variant carriers: 623
genotype quality: GenotypeQuality
  all individuals: 9682
  bin: 6.25e1
  variant carriers: 632
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 4.25e1
  variant carriers: 412
genotype quality: GenotypeQuality
  all individuals: 38147
  bin: 9.75e1
  variant carriers: 36433
hgvs: p.Leu153Pro
num of homozygotes: 17500
population: East Asian
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

7-76240888-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240888
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240888
    reference: chr 7
allele count: 12
allele frequency: 1.017915309446254e-4
allele num: 117888
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3923A>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.267T>A
  hgvsp: ENSP00000416963.1:p.Leu90Gln
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*112T>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1356T>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35219A>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14350A>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.458T>A
  hgvsp: ENSP00000309233.4:p.Leu153Gln
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14350A>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35219A>T
  variant of: http://identifiers.org/hgnc/21444
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1838
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2504
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2327
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2087
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 444
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1253
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2569
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7964
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4565
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 4441
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19481
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1200
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 443
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 533
  bin: 3.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 5.75e1
  variant carriers: 2
hgvs: p.Leu153Gln
num of homozygotes: 0
population: African
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD

7-76240889-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240889
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240889
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 118076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14349G>A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*111C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.266C>T
  hgvsp: ENST00000441393.1:c.266C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35218G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.457C>T
  hgvsp: ENST00000310842.4:c.457C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14349G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1357C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3922G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35218G>A
  variant of: http://identifiers.org/hgnc/21444
canonical: true
consequence: synonymous
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2122
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu153Leu
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: QD

7-76240889-G-GGCCTTCCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240889
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240897
    reference: chr 7
allele count: 1
allele frequency: 8.469121582709441e-6
allele num: 118076
alternate allele: GGCCTTCCA
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.449_456dupTGGAAGGC
  hgvsp: ENSP00000309233.4:p.Leu153TrpfsTer29
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.258_265dupTGGAAGGC
  hgvsp: ENSP00000416963.1:p.Leu90TrpfsTer29
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36333
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5910
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Leu153TrpfsTer29
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum

7-76240889-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240889
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240889
    reference: chr 7
allele count: 4
allele frequency: 3.387648633083776e-5
allele num: 118076
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1357C>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.457C>A
  hgvsp: ENSP00000309233.4:p.Leu153Met
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*111C>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3922G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35218G>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14349G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.266C>A
  hgvsp: ENSP00000416963.1:p.Leu90Met
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14349G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35218G>T
  variant of: http://identifiers.org/hgnc/21444
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7818
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2189
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu153Met
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

7-76240889-GGCCTT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240889
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240884
    reference: chr 7
allele count: 1
allele frequency: 8.469121582709441e-6
allele num: 118076
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1362_346-1358delAAGGC
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.261_265delAAGGC
  hgvsp: ENSP00000416963.1:p.Glu88AlafsTer3
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3921_306-3917delGCCTT
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*106_*110delAAGGC
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.452_456delAAGGC
  hgvsp: ENSP00000309233.4:p.Glu151AlafsTer3
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  variant of: http://identifiers.org/hgnc/21444
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 684
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 780
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1356
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1410
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10993
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7818
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Glu151AlafsTer3
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: GGCCTT
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ

7-76240890-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240890
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240890
    reference: chr 7
allele count: 1
allele frequency: 8.48219587086705e-6
allele num: 117894
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3921G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.265C>T
  hgvsp: ENST00000441393.1:c.265C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14348G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14348G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35217G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35217G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*110C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.456C>T
  hgvsp: ENST00000310842.4:c.456C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1358C>T
  variant of: http://identifiers.org/hgnc/9203
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11017
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10604
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 650
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2075
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly152Gly
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: FS

7-76240891-CCTT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240891
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240888
    reference: chr 7
allele count: 1
allele frequency: 8.479175145841813e-6
allele num: 117936
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.452_454delAAG
  hgvsp: ENSP00000309233.4:p.Glu151del
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14345_606-14343delTTC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35214_*253-35212delTTC
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*106_*108delAAG
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14345_605-14343delTTC
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.261_263delAAG
  hgvsp: ENSP00000416963.1:p.Glu88del
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35214_*206-35212delTTC
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1362_346-1360delAAG
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3918_306-3916delTTC
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10580
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1421
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 488
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1189
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu151del
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: CCTT
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

7-76240893-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240893
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240893
    reference: chr 7
allele count: 1
allele frequency: 8.485794779539051e-6
allele num: 117844
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*107A>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.262A>G
  hgvsp: ENST00000441393.1:c.262A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.453A>G
  hgvsp: ENST00000310842.4:c.453A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35214T>C
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14345T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35214T>C
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1361A>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3918T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14345T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 680
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11138
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10542
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2421
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26697
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2099
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu151Glu
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-76240897-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240897
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240897
    reference: chr 7
allele count: 12
allele frequency: 1.020182612687671e-4
allele num: 117626
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.258T>G
  hgvsp: ENSP00000416963.1:p.Val87Gly
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.449T>G
  hgvsp: ENSP00000309233.4:p.Val150Gly
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35210A>C
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1365T>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3914A>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14341A>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14341A>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*103T>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35210A>C
  variant of: http://identifiers.org/hgnc/21444
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10471
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 568
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1536
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1548
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2405
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26541
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 773
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11168
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2148
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Val150Gly
num of homozygotes: 1
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

7-76240899-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240899
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240899
    reference: chr 7
allele count: 2
allele frequency: 1.701229989282251e-5
allele num: 117562
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14339T>C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.447A>G
  hgvsp: ENST00000310842.4:c.447A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35208T>C
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14339T>C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*101A>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1367A>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.256A>G
  hgvsp: ENST00000441393.1:c.256A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35208T>C
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3912T>C
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10453
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26519
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2403
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 545
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11187
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 994
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro149Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-76240911-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240911
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240911
    reference: chr 7
allele count: 2
allele frequency: 1.713913550200528e-5
allele num: 116692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35196G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.438-3C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*92-3C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14327G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1379C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35196G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.244C>T
  hgvsp: ENST00000441393.1:c.244C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3900G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14327G>A
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.90to99.95
genotype depth: GenotypeDepth
  all individuals: 269
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25925
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1846
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2064
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10260
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5860
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1995
  bin: 7.25e1
  variant carriers: 0
hgvs: c.438-3C>T
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: MQRankSum

7-76240918-AAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240918
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240916
    reference: chr 7
allele count: 1
allele frequency: 8.590770076629668e-6
allele num: 116404
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35185_*206-35184delGA
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14316_606-14315delGA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35185_*253-35184delGA
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3889_306-3888delGA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14316_605-14315delGA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.235_236delCT
  hgvsp: ENSP00000416963.1:p.Phe80SerfsTer12
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.438-12_438-11delCT
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1388_346-1387delCT
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*92-12_*92-11delCT
  variant of: http://identifiers.org/hgnc/9203
canonical: false
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10967
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25668
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 679
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1969
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10175
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 634
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe80SerfsTer12
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: AAG
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: QD

7-76240928-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240928
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240928
    reference: chr 7
allele count: 1
allele frequency: 8.647227698799765e-6
allele num: 115644
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*92-20C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.227C>T
  hgvsp: ENST00000441393.1:c.227C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3883G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14310G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35179G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35179G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.438-20C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14310G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1396C>T
  variant of: http://identifiers.org/hgnc/9203
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu77Leu
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

7-76240928-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240928
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240928
    reference: chr 7
allele count: 1
allele frequency: 8.647227698799765e-6
allele num: 115644
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.227C>G
  hgvsp: ENSP00000416963.1:p.Leu77Val
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35179G>C
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1396C>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14310G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3883G>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*92-20C>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.438-20C>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35179G>C
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14310G>C
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 992
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10664
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9982
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2346
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2198
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu77Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: MQ

7-76240937-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240937
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240937
    reference: chr 7
allele count: 19
allele frequency: 1.653180196641434e-4
allele num: 114930
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14301T>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14301T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1405A>C
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.438-29A>C
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3874T>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35170T>G
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.218A>C
  hgvsp: ENSP00000416963.1:p.Lys74Gln
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*92-29A>C
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35170T>G
  variant of: http://identifiers.org/hgnc/21444
canonical: false
consequence: missense
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 1234
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24492
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9800
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 704
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3393
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1375
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2441
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10145
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys74Gln
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: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-76240947-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240947
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240947
    reference: chr 7
allele count: 6
allele frequency: 5.282620179609086e-5
allele num: 113580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*92-39C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1415C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35160G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14291G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14291G>A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3864G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35160G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.211-3C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.438-39C>T
  variant of: http://identifiers.org/hgnc/9203
canonical: false
consequence: splice region
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 9508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9393
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2823
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1369
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 978
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6791
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31669
  bin: 6.25e1
  variant carriers: 0
hgvs: c.211-3C>T
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ

7-76240949-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240949
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240949
    reference: chr 7
allele count: 1
allele frequency: 8.809641271407429e-6
allele num: 113512
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14289A>G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.211-5T>C
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35158A>G
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14289A>G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*92-41T>C
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1417T>C
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.438-41T>C
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3862A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35158A>G
  variant of: http://identifiers.org/hgnc/21444
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1366
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23411
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 987
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9430
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4321
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9345
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 926
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1950
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2276
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5139
  bin: 2.25e1
  variant carriers: 0
hgvs: c.211-5T>C
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

7-76240951-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240951
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240951
    reference: chr 7
allele count: 2
allele frequency: 1.769786209825853e-5
allele num: 113008
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*92-43C>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.211-7C>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14287G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.438-43C>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3860G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1419C>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35156G>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14287G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35156G>T
  variant of: http://identifiers.org/hgnc/21444
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 22870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2375
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 986
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2260
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9296
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4612
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30753
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1118
  bin: 2.75e1
  variant carriers: 0
hgvs: c.211-7C>A
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

7-76240956-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240956
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240956
    reference: chr 7
allele count: 1
allele frequency: 8.92889031751134e-6
allele num: 111996
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*92-48T>C
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14282A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14282A>G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3855A>G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.211-12T>C
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35151A>G
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35151A>G
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1424T>C
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.438-48T>C
  variant of: http://identifiers.org/hgnc/9203
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3229
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3119
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1349
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8684
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9231
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1661
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29328
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1717
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

7-76240958-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240958
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240958
    reference: chr 7
allele count: 1
allele frequency: 8.962661551974475e-6
allele num: 111574
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35149T>C
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1426A>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14280T>C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14280T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.438-50A>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*92-50A>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.211-14A>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3853T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35149T>C
  variant of: http://identifiers.org/hgnc/21444
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2145
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8477
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21388
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 984
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5212
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9349
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3324
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3302
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 767
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1794
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5706
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD

7-76240964-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240964
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240964
    reference: chr 7
allele count: 3
allele frequency: 2.71144773232588e-5
allele num: 110642
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.438-56C>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14274G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.211-20C>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*92-56C>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35143G>C
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14274G>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3847G>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1432C>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35143G>C
  variant of: http://identifiers.org/hgnc/21444
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3585
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5408
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3545
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20722
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1436
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9835
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1326
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2029
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1883
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

7-76240969-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240969
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240970
    reference: chr 7
allele count: 1
allele frequency: 9.071117561683599e-6
allele num: 110240
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1438dupT
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14268dupA
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.438-62dupT
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14268dupA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35137dupA
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3841dupA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*92-62dupT
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.211-26dupT
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35137dupA
  variant of: http://identifiers.org/hgnc/21444
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2008
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20294
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 579
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 676
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3682
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3454
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1317
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7670
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5435
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5809
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27801
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1437
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-76240973-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240973
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240973
    reference: chr 7
allele count: 2
allele frequency: 1.822522735971131e-5
allele num: 109738
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14265T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14265T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.438-65A>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.211-29A>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1441A>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35134T>C
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35134T>C
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*92-65A>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3838T>C
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7562
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3425
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5304
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3758
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1997
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 612
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1727
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6546
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5794
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum

7-76240974-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240974
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240974
    reference: chr 7
allele count: 300
allele frequency: 2.734681227324935e-3
allele num: 109702
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.437+65A>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.211-30A>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1442A>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14264T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35133T>C
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14264T>C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3837T>C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*91+65A>G
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35133T>C
  variant of: http://identifiers.org/hgnc/21444
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1675
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 5.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 3734
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5233
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10868
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 7544
  bin: 3.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 8.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 6.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 4.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 7.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1993
  bin: 3.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 6.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 9.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 19999
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 4.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.75e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 28165
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6539
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 23
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

7-76240976-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240976
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240976
    reference: chr 7
allele count: 1
allele frequency: 9.126585744273067e-6
allele num: 109570
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*91+63C>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14262G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.211-32C>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14262G>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.437+63C>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35131G>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35131G>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3835G>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1444C>A
  variant of: http://identifiers.org/hgnc/9203
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11182
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19951
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5169
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1737
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7540
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1970
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 977
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28258
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: African
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD

7-76240995-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240995
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240995
    reference: chr 7
allele count: 1
allele frequency: 9.246417013407305e-6
allele num: 108150
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3816C>T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14243C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.437+44G>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.210+44G>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14243C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*91+44G>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35112C>T
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1463G>A
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35112C>T
  variant of: http://identifiers.org/hgnc/21444
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3420
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19662
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13768
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7041
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 726
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1255
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 549
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1102
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4307
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5823
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD

7-76240996-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 76240996
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 76240996
    reference: chr 7
allele count: 3039
allele frequency: 2.813524172792416e-2
allele num: 108014
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000441602
  ensembl transcript: ENST00000419923
  gene symbol: UPK3B
  hgvsc: ENST00000419923.2:c.*206-35111G>A
  variant of: http://identifiers.org/hgnc/21444
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000309233
  ensembl transcript: ENST00000310842
  gene symbol: POMZP3
  hgvsc: ENST00000310842.4:c.437+43C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000275569
  ensembl transcript: ENST00000275569
  gene symbol: POMZP3
  hgvsc: ENST00000275569.4:c.346-1464C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000450661
  gene symbol: AC004980.7
  hgvsc: ENST00000450661.1:n.605-14242G>A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000418663
  gene symbol: AC004980.7
  hgvsc: ENST00000418663.1:n.606-14242G>A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416963
  ensembl transcript: ENST00000441393
  gene symbol: POMZP3
  hgvsc: ENST00000441393.1:c.210+43C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000205485
  ensembl transcript: ENST00000423084
  gene symbol: AC004980.7
  hgvsc: ENST00000423084.1:n.306-3815G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000146707
  ensembl protein: ENSP00000416591
  ensembl transcript: ENST00000424818
  gene symbol: POMZP3
  hgvsc: ENST00000424818.1:c.*91+43C>T
  variant of: http://identifiers.org/hgnc/9203
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000243566
  ensembl protein: ENSP00000444585
  ensembl transcript: ENST00000443097
  gene symbol: UPK3B
  hgvsc: ENST00000443097.2:c.*253-35111G>A
  variant of: http://identifiers.org/hgnc/21444
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 6.75e1
  variant carriers: 223
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 3.25e1
  variant carriers: 91
genotype depth: GenotypeDepth
  all individuals: 13839
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 2779
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19540
  bin: 2.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 2490
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3188
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1093
  bin: 9.75e1
  variant carriers: 516
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 5.25e1
  variant carriers: 266
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 7.25e1
  variant carriers: 197
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 5.75e1
  variant carriers: 281
genotype depth: GenotypeDepth
  all individuals: 2767
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 4.25e1
  variant carriers: 204
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 8.25e1
  variant carriers: 153
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 123
genotype depth: GenotypeDepth
  all individuals: 535
  bin: 6.25e1
  variant carriers: 269
genotype depth: GenotypeDepth
  all individuals: 338
  bin: 7.75e1
  variant carriers: 187
num of homozygotes: 3
reference allele: G

GenotypeQuality
all individuals: 1329
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2117
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1734
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 213
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11419
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 84
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 135
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2419
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1856
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.127141568981064e-4
allele num: 8872
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43602
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8100
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5478
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6932
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.435e0

DP
type: SiteQuality
SIO_000300: 1.9451e6

FS
type: SiteQuality
SIO_000300: 7.859e0

MQ
type: SiteQuality
SIO_000300: 4.801e1

QD
type: SiteQuality
SIO_000300: 1.263e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

GenotypeQuality
all individuals: 2042
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1329
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 4.25e1
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GenotypeQuality
all individuals: 1734
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2419
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1856
bin: 7.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2022
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6716
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.586945552956287e-5
allele num: 43602
num of homozygotes: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6932
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5478
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.12e-2

QD
type: SiteQuality
SIO_000300: 1.263e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.48e0

FS
type: SiteQuality
SIO_000300: 7.859e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.435e0

MQ
type: SiteQuality
SIO_000300: 4.801e1

DP
type: SiteQuality
SIO_000300: 1.9451e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.37e-1

GenotypeQuality
all individuals: 863
bin: 4.25e1
variant carriers: 819

GenotypeQuality
all individuals: 932
bin: 2.75e1
variant carriers: 854

GenotypeQuality
all individuals: 991
bin: 2.25e1
variant carriers: 703

GenotypeQuality
all individuals: 829
bin: 2.5e0
variant carriers: 270

GenotypeQuality
all individuals: 1450
bin: 7.75e1
variant carriers: 840

GenotypeQuality
all individuals: 934
bin: 9.25e1
variant carriers: 704

GenotypeQuality
all individuals: 1135
bin: 8.25e1
variant carriers: 768

GenotypeQuality
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bin: 4.75e1
variant carriers: 924

GenotypeQuality
all individuals: 2600
bin: 6.75e1
variant carriers: 689

GenotypeQuality
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bin: 7.25e1
variant carriers: 1037

GenotypeQuality
all individuals: 32552
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variant carriers: 30108

GenotypeQuality
all individuals: 9398
bin: 6.25e1
variant carriers: 950

GenotypeQuality
all individuals: 1152
bin: 8.75e1
variant carriers: 974

GenotypeQuality
all individuals: 504
bin: 1.25e1
variant carriers: 455

Latino
type: Population
allele count: 5556
allele frequency: 5.003602305475504e-1
allele num: 11104
num of homozygotes: 1394

Other
type: Population
allele count: 428
allele frequency: 5.083135391923991e-1
allele num: 842
num of homozygotes: 118

South Asian
type: Population
allele count: 7458
allele frequency: 5.454146555506801e-1
allele num: 13674
num of homozygotes: 2059

East Asian
type: Population
allele count: 3669
allele frequency: 4.308360732738375e-1
allele num: 8516
num of homozygotes: 757

European (Non-Finnish)
type: Population
allele count: 32450
allele frequency: 5.154393544697884e-1
allele num: 62956
num of homozygotes: 9147

African
type: Population
allele count: 5040
allele frequency: 5.201238390092879e-1
allele num: 9690
num of homozygotes: 1489

European (Finnish)
type: Population
allele count: 2240
allele frequency: 3.482587064676617e-1
allele num: 6432
num of homozygotes: 443

MQ
type: SiteQuality
SIO_000300: 4.974e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.202e-1

QD
type: SiteQuality
SIO_000300: 1.506e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.98e-1

FS
type: SiteQuality
SIO_000300: 7.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

MQRankSum
type: SiteQuality
SIO_000300: -3.028e0

DP
type: SiteQuality
SIO_000300: 2.681175e6

GenotypeQuality
all individuals: 178
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 533
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variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2432
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 36
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variant carriers: 0

GenotypeQuality
all individuals: 91
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variant carriers: 0

GenotypeQuality
all individuals: 79
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GenotypeQuality
all individuals: 515
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variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 608
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variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1920
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2692
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2838
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 3.450655624568668e-4
allele num: 2898
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2784
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2530
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.666e1

DP
type: SiteQuality
SIO_000300: 5.16177e5

QD
type: SiteQuality
SIO_000300: 1.24e1

FS
type: SiteQuality
SIO_000300: 5.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.95e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.43e-1

GenotypeQuality
all individuals: 608
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 26
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variant carriers: 0

GenotypeQuality
all individuals: 79
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GenotypeQuality
all individuals: 91
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GenotypeQuality
all individuals: 367
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GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 85
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variant carriers: 0

GenotypeQuality
all individuals: 515
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variant carriers: 0

GenotypeQuality
all individuals: 36
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GenotypeQuality
all individuals: 8477
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variant carriers: 0

GenotypeQuality
all individuals: 2432
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 228
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variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 222
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2784
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2530
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2838
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 3.714710252600297e-4
allele num: 2692
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2898
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.24e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.61e-1

DP
type: SiteQuality
SIO_000300: 5.16177e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.95e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 5.08e0

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.25e-1

MQ
type: SiteQuality
SIO_000300: 4.666e1

GenotypeQuality
all individuals: 11072
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1076
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 991
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 511
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variant carriers: 0

GenotypeQuality
all individuals: 504
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GenotypeQuality
all individuals: 1339
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variant carriers: 0

GenotypeQuality
all individuals: 906
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variant carriers: 0

GenotypeQuality
all individuals: 1964
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variant carriers: 0

GenotypeQuality
all individuals: 1491
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variant carriers: 0

GenotypeQuality
all individuals: 1716
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3556
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65126
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.36518771331058e-4
allele num: 14650
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.9e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.192e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.094e0

MQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.099e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.569e0

QD
type: SiteQuality
SIO_000300: 1.584e1

DP
type: SiteQuality
SIO_000300: 2.777547e6

GenotypeQuality
all individuals: 11723
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1155
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1358
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GenotypeQuality
all individuals: 840
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 224
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GenotypeQuality
all individuals: 480
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GenotypeQuality
all individuals: 890
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GenotypeQuality
all individuals: 109
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GenotypeQuality
all individuals: 1980
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GenotypeQuality
all individuals: 1733
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GenotypeQuality
all individuals: 500
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variant carriers: 0

GenotypeQuality
all individuals: 3636
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variant carriers: 0

GenotypeQuality
all individuals: 997
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10102
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14706
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.313743637204998e-4
allele num: 8644
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11494
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -4.268e0

FS
type: SiteQuality
SIO_000300: 2.025e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.73e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.74e-1

MQ
type: SiteQuality
SIO_000300: 5.336e1

QD
type: SiteQuality
SIO_000300: 6.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.587e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.13e0

DP
type: SiteQuality
SIO_000300: 2.780512e6

GenotypeQuality
all individuals: 109
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 995
bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 31636
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GenotypeQuality
all individuals: 155
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GenotypeQuality
all individuals: 476
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GenotypeQuality
all individuals: 488
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GenotypeQuality
all individuals: 1495
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GenotypeQuality
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GenotypeQuality
all individuals: 96
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GenotypeQuality
all individuals: 962
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GenotypeQuality
all individuals: 3641
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GenotypeQuality
all individuals: 1972
bin: 7.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6574
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14710
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534260026389273e-5
allele num: 65178
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.782301e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e-1

FS
type: SiteQuality
SIO_000300: 1.464e0

VQSLOD
type: SiteQuality
SIO_000300: -1.977e0

QD
type: SiteQuality
SIO_000300: 1.693e1

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.94e-1

MQ
type: SiteQuality
SIO_000300: 4.298e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

GenotypeQuality
all individuals: 1993
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 754
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GenotypeQuality
all individuals: 295
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GenotypeQuality
all individuals: 65
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GenotypeQuality
all individuals: 184
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GenotypeQuality
all individuals: 35
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GenotypeQuality
all individuals: 1523
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GenotypeQuality
all individuals: 1225
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GenotypeQuality
all individuals: 31653
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variant carriers: 2

GenotypeQuality
all individuals: 123
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GenotypeQuality
all individuals: 1387
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GenotypeQuality
all individuals: 13248
bin: 6.25e1
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GenotypeQuality
all individuals: 1758
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 684
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11492
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.156871818602499e-4
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65224
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14798
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.867771857114664e-5
allele num: 10134
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.034e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

MQ
type: SiteQuality
SIO_000300: 4.6e1

FS
type: SiteQuality
SIO_000300: 1.3872e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.024e0

DP
type: SiteQuality
SIO_000300: 2.795162e6

QD
type: SiteQuality
SIO_000300: 1.364e1

GenotypeQuality
all individuals: 684
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 183
bin: 7.5e0
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GenotypeQuality
all individuals: 31857
bin: 9.75e1
variant carriers: 1

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: 6.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 201
bin: 2.5e0
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1389
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1954
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1007
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1500
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11464
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6560
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9880
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14880
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 870
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532238293699436e-5
allele num: 65264
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

MQ
type: SiteQuality
SIO_000300: 4.313e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

MQRankSum
type: SiteQuality
SIO_000300: -3.227e0

QD
type: SiteQuality
SIO_000300: 3.48e0

DP
type: SiteQuality
SIO_000300: 2.816159e6

FS
type: SiteQuality
SIO_000300: 2.794e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.373e0

GenotypeQuality
all individuals: 13402
bin: 6.25e1
variant carriers: 14

GenotypeQuality
all individuals: 224
bin: 4.25e1
variant carriers: 19

GenotypeQuality
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bin: 4.75e1
variant carriers: 13

GenotypeQuality
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variant carriers: 10

GenotypeQuality
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variant carriers: 8

GenotypeQuality
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variant carriers: 12

GenotypeQuality
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bin: 3.25e1
variant carriers: 21

GenotypeQuality
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bin: 7.5e0
variant carriers: 10

GenotypeQuality
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bin: 8.75e1
variant carriers: 17

GenotypeQuality
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variant carriers: 454

GenotypeQuality
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variant carriers: 11

GenotypeQuality
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variant carriers: 20

GenotypeQuality
all individuals: 1158
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variant carriers: 17

GenotypeQuality
all individuals: 570
bin: 3.75e1
variant carriers: 18

East Asian
type: Population
allele count: 2
allele frequency: 2.313743637204998e-4
allele num: 8644
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.704301075268817e-4
allele num: 14880
num of homozygotes: 0

African
type: Population
allele count: 627
allele frequency: 6.346153846153846e-2
allele num: 9880
num of homozygotes: 35

Latino
type: Population
allele count: 32
allele frequency: 2.791346824842987e-3
allele num: 11464
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 29
allele frequency: 4.443491051728365e-4
allele num: 65264
num of homozygotes: 1

Other
type: Population
allele count: 3
allele frequency: 3.448275862068965e-3
allele num: 870
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 9
allele frequency: 1.371951219512195e-3
allele num: 6560
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.227e0

DP
type: SiteQuality
SIO_000300: 2.816159e6

QD
type: SiteQuality
SIO_000300: 3.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.373e0

VQSLOD
type: SiteQuality
SIO_000300: 1.28e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e0

MQ
type: SiteQuality
SIO_000300: 4.313e1

FS
type: SiteQuality
SIO_000300: 2.794e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.38e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-1

GenotypeQuality
all individuals: 1426
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1749
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31941
bin: 9.75e1
variant carriers: 2

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: 0

GenotypeQuality
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GenotypeQuality
all individuals: 104
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variant carriers: 0

GenotypeQuality
all individuals: 1020
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variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2012
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11510
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.313743637204998e-4
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65398
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: 874
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.06e-1

MQ
type: SiteQuality
SIO_000300: 5.129e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.419999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.293e0

FS
type: SiteQuality
SIO_000300: 6.62e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.859e0

DP
type: SiteQuality
SIO_000300: 2.827772e6

QD
type: SiteQuality
SIO_000300: 9.91e0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 120
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variant carriers: 0

GenotypeQuality
all individuals: 953
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 17
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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
all individuals: 31944
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1541
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10312
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65502
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.533385600418136e-5
allele num: 15306
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.833643e6

MQ
type: SiteQuality
SIO_000300: 4.29e1

FS
type: SiteQuality
SIO_000300: 5.517e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.03e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.31e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.176e0

QD
type: SiteQuality
SIO_000300: 1.052e1

GenotypeQuality
all individuals: 853
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2050
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 127
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variant carriers: 0

GenotypeQuality
all individuals: 1454
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variant carriers: 0

GenotypeQuality
all individuals: 3964
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variant carriers: 0

GenotypeQuality
all individuals: 15081
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variant carriers: 0

GenotypeQuality
all individuals: 1770
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 156
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variant carriers: 0

GenotypeQuality
all individuals: 14
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variant carriers: 0

GenotypeQuality
all individuals: 1032
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GenotypeQuality
all individuals: 31947
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 57
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variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 3.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65618
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10314
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 7.098606091894683e-4
allele num: 15496
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
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: 8648
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.793e1

FS
type: SiteQuality
SIO_000300: 1.406e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.31e-1

DP
type: SiteQuality
SIO_000300: 2.839144e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.248e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.324e0

MQRankSum
type: SiteQuality
SIO_000300: -1.13e0

VQSLOD
type: SiteQuality
SIO_000300: -2.346e0

QD
type: SiteQuality
SIO_000300: 9.5e0

GenotypeQuality
all individuals: 16
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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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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1784
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.678668215253581e-5
allele num: 10332
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.670019074041963e-5
allele num: 11534
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15692
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65750
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.279e0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

QD
type: SiteQuality
SIO_000300: 1.443e1

FS
type: SiteQuality
SIO_000300: 5.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

DP
type: SiteQuality
SIO_000300: 2.844117e6

VQSLOD
type: SiteQuality
SIO_000300: -1.577e0

MQ
type: SiteQuality
SIO_000300: 4.752e1

GenotypeQuality
all individuals: 121
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 4014
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10332
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 882
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15692
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520912547528517e-5
allele num: 65750
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.752e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.09e-1

DP
type: SiteQuality
SIO_000300: 2.844117e6

VQSLOD
type: SiteQuality
SIO_000300: -1.577e0

FS
type: SiteQuality
SIO_000300: 5.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.999999999999999e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.279e0

QD
type: SiteQuality
SIO_000300: 1.443e1

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
all individuals: 107
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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: 4017
bin: 6.75e1
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GenotypeQuality
all individuals: 1471
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GenotypeQuality
all individuals: 638
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520450053215752e-5
allele num: 65770
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15790
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.218e0

VQSLOD
type: SiteQuality
SIO_000300: 4.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: 9.75e-1

QD
type: SiteQuality
SIO_000300: 8.949999999999999e0

DP
type: SiteQuality
SIO_000300: 2.847673e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.312e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.732e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-1

MQ
type: SiteQuality
SIO_000300: 4.279e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

GenotypeQuality
all individuals: 31948
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 1789
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 15
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variant carriers: 0

GenotypeQuality
all individuals: 15321
bin: 6.25e1
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GenotypeQuality
all individuals: 86
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GenotypeQuality
all individuals: 85
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GenotypeQuality
all individuals: 69
bin: 5.25e1
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GenotypeQuality
all individuals: 1035
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GenotypeQuality
all individuals: 2063
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4017
bin: 6.75e1
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GenotypeQuality
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bin: 4.75e1
variant carriers: 0

East Asian
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allele count: 2
allele frequency: 2.312673450508788e-4
allele num: 8648
num of homozygotes: 0

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 888
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African
type: Population
allele count: 1
allele frequency: 9.674922600619196e-5
allele num: 10336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.561350159647255e-5
allele num: 65770
num of homozygotes: 0

South Asian
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allele count: 2
allele frequency: 1.266624445851805e-4
allele num: 15790
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
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BaseQRankSum
type: SiteQuality
SIO_000300: 9.75e-1

QD
type: SiteQuality
SIO_000300: 8.949999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

MQ
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SIO_000300: 4.279e1

VQSLOD
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SIO_000300: 4.98e0

MQRankSum
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DP
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InbreedingCoeff
type: SiteQuality
SIO_000300: 1.312e-1

FS
type: SiteQuality
SIO_000300: 2.218e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.94e-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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variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10338
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
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South Asian
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allele count: 50
allele frequency: 3.14346787375833e-3
allele num: 15906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65832
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
num of homozygotes: 0

Other
type: Population
allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: -2.86e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

DP
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SIO_000300: 2.850715e6

FS
type: SiteQuality
SIO_000300: 1.314e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQ
type: SiteQuality
SIO_000300: 4.491e1

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.61e-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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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.073489219556635e-5
allele num: 65860
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.671179883945841e-5
allele num: 10340
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.516990291262136e-4
allele num: 6592
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
allele num: 15978
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East Asian
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allele count: 0
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.6e-2

InbreedingCoeff
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.423e0

MQ
type: SiteQuality
SIO_000300: 4.808e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.851934e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.66e-1

VQSLOD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

African
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allele count: 3
allele frequency: 2.904162633107454e-4
allele num: 10330
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 60
allele frequency: 9.116324298043029e-4
allele num: 65816
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.033980582524272e-4
allele num: 6592
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.312673450508788e-4
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16000
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Latino
type: Population
allele count: 2
allele frequency: 1.73370319001387e-4
allele num: 11536
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.019999999999999e-2

FS
type: SiteQuality
SIO_000300: 2.695e0

MQ
type: SiteQuality
SIO_000300: 4.228e1

DP
type: SiteQuality
SIO_000300: 2.858632e6

VQSLOD
type: SiteQuality
SIO_000300: -1.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.75e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.664e0

QD
type: SiteQuality
SIO_000300: 2.24e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.64e-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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variant carriers: 2

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.551799478060327e-5
allele num: 65908
num of homozygotes: 1

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.222775357809582e-5
allele num: 16070
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.98e-1

FS
type: SiteQuality
SIO_000300: 2.445e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.57e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

MQ
type: SiteQuality
SIO_000300: 4.472e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.83e-2

MQRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.916e1

DP
type: SiteQuality
SIO_000300: 2.856678e6

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516990291262136e-5
allele num: 65920
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11550
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Other
type: Population
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allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
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South Asian
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allele count: 0
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 4.362e1

QD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.516898246465627e-5
allele num: 65924
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Other
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African
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FS
type: SiteQuality
SIO_000300: 4.912e0

ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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MQ
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InbreedingCoeff
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DP
type: SiteQuality
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VQSLOD
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BaseQRankSum
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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East Asian
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African
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European (Finnish)
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Latino
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allele num: 11550
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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
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VQSLOD
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QD
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BaseQRankSum
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InbreedingCoeff
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ClippingRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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European (Finnish)
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East Asian
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African
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Latino
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South Asian
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Other
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QD
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FS
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InbreedingCoeff
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MQRankSum
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BaseQRankSum
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VQSLOD
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DP
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MQ
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ClippingRankSum
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SIO_000300: -1.251e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-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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variant carriers: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516806212838248e-5
allele num: 65928
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10334
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.05e0

QD
type: SiteQuality
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VQSLOD
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SIO_000300: -1.963e0

InbreedingCoeff
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SIO_000300: -2.0e-4

FS
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SIO_000300: 0.0e0

MQ
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SIO_000300: 4.388e1

MQRankSum
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BaseQRankSum
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SIO_000300: -2.889e0

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.75e-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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variant carriers: 0

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

European (Finnish)
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allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 1.517128379403465e-5
allele num: 65914
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

InbreedingCoeff
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DP
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ClippingRankSum
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ReadPosRankSum
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VQSLOD
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MQRankSum
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FS
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BaseQRankSum
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SIO_000300: -5.0e-3

MQ
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SIO_000300: 5.104e1

QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65918
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 10302
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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East Asian
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allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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ClippingRankSum
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InbreedingCoeff
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QD
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FS
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SIO_000300: 6.164e0

MQ
type: SiteQuality
SIO_000300: 3.964e1

VQSLOD
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ReadPosRankSum
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DP
type: SiteQuality
SIO_000300: 2.855164e6

BaseQRankSum
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SIO_000300: -8.500000000000001e-2

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

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

European (Non-Finnish)
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allele count: 6
allele frequency: 9.102770276420791e-5
allele num: 65914
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16228
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 8.98e0

DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.41e-1

InbreedingCoeff
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VQSLOD
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BaseQRankSum
type: SiteQuality
SIO_000300: -9.350000000000001e-1

MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.74e-1

FS
type: SiteQuality
SIO_000300: 3.294e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-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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variant carriers: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11550
num of homozygotes: 0

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

Other
type: Population
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num of homozygotes: 0

African
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allele count: 1
allele frequency: 9.738994935722633e-5
allele num: 10268
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
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FS
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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VQSLOD
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ReadPosRankSum
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MQ
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QD
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ClippingRankSum
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BaseQRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65900
num of homozygotes: 0

Latino
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num of homozygotes: 0

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

European (Non-Finnish)
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African
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Other
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South Asian
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European (Finnish)
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num of homozygotes: 0

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

South Asian
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allele num: 16242
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

East Asian
type: Population
allele count: 4
allele frequency: 4.624277456647399e-4
allele num: 8650
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.14e-1

FS
type: SiteQuality
SIO_000300: 2.4123e1

QD
type: SiteQuality
SIO_000300: 1.063e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.352e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.3e-2

VQSLOD
type: SiteQuality
SIO_000300: -5.019e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.7e-1

DP
type: SiteQuality
SIO_000300: 2.850809e6

MQ
type: SiteQuality
SIO_000300: 3.838e1

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 257
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 944
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31984
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 38
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1781
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1457
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1537
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.659508139937652e-5
allele num: 11548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16240
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.038220817889044e-5
allele num: 65828
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10190
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.141e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.57e-1

DP
type: SiteQuality
SIO_000300: 2.849248e6

QD
type: SiteQuality
SIO_000300: 2.905e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.46e-1

GenotypeQuality
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 277
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14420
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 946
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.5e0
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GenotypeQuality
all individuals: 3896
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1038
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 405
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1536
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1779
bin: 8.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16240
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.519433555170632e-5
allele num: 65814
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 4.489e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.96e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.36e-1

QD
type: SiteQuality
SIO_000300: 1.413e1

FS
type: SiteQuality
SIO_000300: 2.684e0

MQRankSum
type: SiteQuality
SIO_000300: 2.17e0

DP
type: SiteQuality
SIO_000300: 2.848464e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.78e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.66e-1

GenotypeQuality
all individuals: 13817
bin: 6.25e1
variant carriers: 4

GenotypeQuality
all individuals: 32274
bin: 9.75e1
variant carriers: 1985

GenotypeQuality
all individuals: 21
bin: 2.5e0
variant carriers: 9

GenotypeQuality
all individuals: 172
bin: 4.25e1
variant carriers: 4

GenotypeQuality
all individuals: 1003
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 78
bin: 1.75e1
variant carriers: 11

GenotypeQuality
all individuals: 529
bin: 3.25e1
variant carriers: 3

GenotypeQuality
all individuals: 69
bin: 1.25e1
variant carriers: 6

GenotypeQuality
all individuals: 263
bin: 7.5e0
variant carriers: 4

GenotypeQuality
all individuals: 50
bin: 5.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1977
bin: 7.75e1
variant carriers: 4

GenotypeQuality
all individuals: 444
bin: 3.75e1
variant carriers: 10

GenotypeQuality
all individuals: 93
bin: 5.25e1
variant carriers: 5

GenotypeQuality
all individuals: 1497
bin: 9.25e1
variant carriers: 6

African
type: Population
allele count: 2040
allele frequency: 2.01980198019802e-1
allele num: 10100
num of homozygotes: 185

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

South Asian
type: Population
allele count: 7
allele frequency: 4.312469196648596e-4
allele num: 16232
num of homozygotes: 0

Latino
type: Population
allele count: 84
allele frequency: 7.275246838732028e-3
allele num: 11546
num of homozygotes: 5

Other
type: Population
allele count: 11
allele frequency: 1.235955056179775e-2
allele num: 890
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 107
allele frequency: 1.626288111377937e-3
allele num: 65794
num of homozygotes: 3

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

FS
type: SiteQuality
SIO_000300: 1.119e0

VQSLOD
type: SiteQuality
SIO_000300: 6.28e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

QD
type: SiteQuality
SIO_000300: 1.823e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.133e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.595e-1

MQ
type: SiteQuality
SIO_000300: 4.898e1

MQRankSum
type: SiteQuality
SIO_000300: 4.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.49e-1

DP
type: SiteQuality
SIO_000300: 2.966082e6

GenotypeQuality
all individuals: 531
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3864
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13762
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2029
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variant carriers: 0

GenotypeQuality
all individuals: 905
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 574
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 31680
bin: 9.75e1
variant carriers: 1

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: 890
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.520403819254394e-5
allele num: 65772
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -1.181e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.187e0

MQRankSum
type: SiteQuality
SIO_000300: 8.82e-1

MQ
type: SiteQuality
SIO_000300: 4.955e1

QD
type: SiteQuality
SIO_000300: 3.156e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.59e0

DP
type: SiteQuality
SIO_000300: 2.883924e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.205e0

GenotypeQuality
all individuals: 88
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 530
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 31680
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 13823
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 267
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 904
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 349
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1767
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 576
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 246
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1430
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11542
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.849568434032059e-4
allele num: 16220
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10156
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65772
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.561e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.06e0

MQRankSum
type: SiteQuality
SIO_000300: 2.27e0

MQ
type: SiteQuality
SIO_000300: 5.308e1

VQSLOD
type: SiteQuality
SIO_000300: -1.83e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.647e0

FS
type: SiteQuality
SIO_000300: 1.757e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.55e0

DP
type: SiteQuality
SIO_000300: 2.88418e6

GenotypeQuality
all individuals: 3777
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 636
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12690
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 687
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2030
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 599
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 224
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1522
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1428
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1013
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1768
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31679
bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.15606936416185e-4
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10106
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16124
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65658
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.695e0

MQRankSum
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.132e0

DP
type: SiteQuality
SIO_000300: 2.888307e6

VQSLOD
type: SiteQuality
SIO_000300: -1.347e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.0e-1

MQ
type: SiteQuality
SIO_000300: 4.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.69e-1

QD
type: SiteQuality
SIO_000300: 2.52e0

GenotypeQuality
all individuals: 593
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31683
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 258
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1773
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 188
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 571
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 353
bin: 4.25e1
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GenotypeQuality
all individuals: 792
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1523
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3814
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12780
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 4.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6592
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.205013651030033e-5
allele num: 16116
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10116
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65702
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.061e0

QD
type: SiteQuality
SIO_000300: 2.05e0

MQ
type: SiteQuality
SIO_000300: 3.372e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.6e-2

VQSLOD
type: SiteQuality
SIO_000300: -4.236e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

DP
type: SiteQuality
SIO_000300: 2.889888e6

GenotypeQuality
all individuals: 987
bin: 7.25e1
variant carriers: 492

GenotypeQuality
all individuals: 978
bin: 8.25e1
variant carriers: 659

GenotypeQuality
all individuals: 533
bin: 3.75e1
variant carriers: 487

GenotypeQuality
all individuals: 512
bin: 5.75e1
variant carriers: 475

GenotypeQuality
all individuals: 464
bin: 2.25e1
variant carriers: 373

GenotypeQuality
all individuals: 669
bin: 5.25e1
variant carriers: 635

GenotypeQuality
all individuals: 260
bin: 7.5e0
variant carriers: 215

GenotypeQuality
all individuals: 513
bin: 3.25e1
variant carriers: 473

GenotypeQuality
all individuals: 818
bin: 9.25e1
variant carriers: 627

GenotypeQuality
all individuals: 308
bin: 1.25e1
variant carriers: 250

GenotypeQuality
all individuals: 650
bin: 8.75e1
variant carriers: 499

GenotypeQuality
all individuals: 2648
bin: 6.75e1
variant carriers: 682

GenotypeQuality
all individuals: 389
bin: 2.75e1
variant carriers: 340

GenotypeQuality
all individuals: 357
bin: 1.75e1
variant carriers: 310

East Asian
type: Population
allele count: 3735
allele frequency: 4.365357643758766e-1
allele num: 8556
num of homozygotes: 804

African
type: Population
allele count: 5691
allele frequency: 5.717299578059072e-1
allele num: 9954
num of homozygotes: 1670

Other
type: Population
allele count: 468
allele frequency: 5.234899328859061e-1
allele num: 894
num of homozygotes: 133

Latino
type: Population
allele count: 5857
allele frequency: 5.160352422907489e-1
allele num: 11350
num of homozygotes: 1552

European (Non-Finnish)
type: Population
allele count: 34269
allele frequency: 5.303977712428417e-1
allele num: 64610
num of homozygotes: 10030

European (Finnish)
type: Population
allele count: 2343
allele frequency: 3.614625115705029e-1
allele num: 6482
num of homozygotes: 504

South Asian
type: Population
allele count: 9279
allele frequency: 5.784191497319536e-1
allele num: 16042
num of homozygotes: 2807

FS
type: SiteQuality
SIO_000300: 1.1632e1

MQ
type: SiteQuality
SIO_000300: 4.816e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.88e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.379e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.38e-1

DP
type: SiteQuality
SIO_000300: 4.467395e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.131e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

QD
type: SiteQuality
SIO_000300: 1.041e1

GenotypeQuality
all individuals: 357
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 4.75e1
variant carriers: 2

GenotypeQuality
all individuals: 987
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 2648
bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 1

GenotypeQuality
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bin: 2.25e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1192
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38147
bin: 9.75e1
variant carriers: 2

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9954
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.168770453482936e-4
allele num: 8556
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
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: 11
allele frequency: 1.702522829283393e-4
allele num: 64610
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16042
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.379e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.131e-1

MQ
type: SiteQuality
SIO_000300: 4.816e1

VQSLOD
type: SiteQuality
SIO_000300: 2.88e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.629999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.78e-1

FS
type: SiteQuality
SIO_000300: 1.1632e1

DP
type: SiteQuality
SIO_000300: 4.467395e6

QD
type: SiteQuality
SIO_000300: 1.041e1

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

GenotypeQuality
all individuals: 36333
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 1.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10010
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65104
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15330
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.011e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.19e0

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

DP
type: SiteQuality
SIO_000300: 1.826365e6

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 3.341e0

QD
type: SiteQuality
SIO_000300: 9.18e0

GenotypeQuality
all individuals: 2189
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
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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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2049
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.685079034219212e-5
allele num: 11514
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65104
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15330
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10010
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

MQ
type: SiteQuality
SIO_000300: 5.011e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

QD
type: SiteQuality
SIO_000300: 9.18e0

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

FS
type: SiteQuality
SIO_000300: 3.341e0

DP
type: SiteQuality
SIO_000300: 1.826365e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.19e0

GenotypeQuality
all individuals: 228
bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 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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bin: 6.25e1
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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bin: 2.25e1
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GenotypeQuality
all individuals: 2122
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10010
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.956947162426615e-4
allele num: 15330
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.536003932170066e-5
allele num: 65104
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

MQ
type: SiteQuality
SIO_000300: 5.011e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.19e0

FS
type: SiteQuality
SIO_000300: 3.341e0

DP
type: SiteQuality
SIO_000300: 1.826365e6

QD
type: SiteQuality
SIO_000300: 9.18e0

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

GenotypeQuality
all individuals: 2122
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 228
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1210
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65104
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10010
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15330
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.826365e6

QD
type: SiteQuality
SIO_000300: 9.18e0

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 3.341e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.19e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.61e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.61e-1

MQ
type: SiteQuality
SIO_000300: 5.011e1

GenotypeQuality
all individuals: 72
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2111
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 262
bin: 7.5e0
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9984
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65000
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
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: 884
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.542789845590159e-5
allele num: 15284
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

MQ
type: SiteQuality
SIO_000300: 3.192e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.071e0

MQRankSum
type: SiteQuality
SIO_000300: -1.895e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.34e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.801e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

DP
type: SiteQuality
SIO_000300: 1.823708e6

FS
type: SiteQuality
SIO_000300: 2.27e0

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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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 886
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: 0
allele frequency: 0.0e0
allele num: 65042
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9992
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156604210039325e-4
allele num: 8646
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 4.775e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.93e-1

QD
type: SiteQuality
SIO_000300: 1.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

FS
type: SiteQuality
SIO_000300: 8.53e-1

DP
type: SiteQuality
SIO_000300: 1.822492e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.94e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.23e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.29e-1

GenotypeQuality
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bin: 2.25e1
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6584
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9984
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65012
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11514
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.570302233902759e-5
allele num: 15220
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.820549e6

MQRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.0e-4

MQ
type: SiteQuality
SIO_000300: 4.793e1

FS
type: SiteQuality
SIO_000300: 5.754e0

VQSLOD
type: SiteQuality
SIO_000300: -2.398e0

QD
type: SiteQuality
SIO_000300: 6.98e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.96e-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
all individuals: 1171
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.080145382862071e-5
allele num: 64932
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.623393826996954e-4
allele num: 15098
num of homozygotes: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 3.229e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.8e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.37e-1

FS
type: SiteQuality
SIO_000300: 5.3121e1

DP
type: SiteQuality
SIO_000300: 1.815622e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.34e0

VQSLOD
type: SiteQuality
SIO_000300: -1.767e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.52e-1

QD
type: SiteQuality
SIO_000300: 8.94e0

GenotypeQuality
all individuals: 107
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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bin: 7.5e0
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GenotypeQuality
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GenotypeQuality
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bin: 5.75e1
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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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variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5871
bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64896
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.313208420078649e-4
allele num: 8646
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11508
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9976
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15072
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.499e0

DP
type: SiteQuality
SIO_000300: 1.814428e6

FS
type: SiteQuality
SIO_000300: 6.4639e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

MQ
type: SiteQuality
SIO_000300: 4.903e1

QD
type: SiteQuality
SIO_000300: 8.7e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.373e0

VQSLOD
type: SiteQuality
SIO_000300: -2.34e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e0

GenotypeQuality
all individuals: 2068
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 7.5e0
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GenotypeQuality
all individuals: 31
bin: 2.5e0
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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: 3.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 133
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 442
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11484
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9870
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.357773251866938e-4
allele num: 14730
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64512
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6572
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

FS
type: SiteQuality
SIO_000300: 1.40374e2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.422e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.580000000000001e-1

MQ
type: SiteQuality
SIO_000300: 3.169e1

QD
type: SiteQuality
SIO_000300: 2.3e0

DP
type: SiteQuality
SIO_000300: 1.796393e6

VQSLOD
type: SiteQuality
SIO_000300: -9.443000000000001e1

MQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

GenotypeQuality
all individuals: 464
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1129
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 302
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GenotypeQuality
all individuals: 5852
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14634
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9824
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.553277415346381e-5
allele num: 64380
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.33e-1

FS
type: SiteQuality
SIO_000300: 4.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.0e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.124e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

DP
type: SiteQuality
SIO_000300: 1.789356e6

MQ
type: SiteQuality
SIO_000300: 3.946e1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

QD
type: SiteQuality
SIO_000300: 1.746e1

GenotypeQuality
all individuals: 45
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 153
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variant carriers: 0

GenotypeQuality
all individuals: 102
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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: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 674
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 632
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11454
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14434
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.030078285949732e-4
allele num: 9708
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 4.989e1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -2.79e-1

DP
type: SiteQuality
SIO_000300: 1.771859e6

VQSLOD
type: SiteQuality
SIO_000300: -1.807e0

FS
type: SiteQuality
SIO_000300: 2.319e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.45e-1

QD
type: SiteQuality
SIO_000300: 6.16e0

GenotypeQuality
all individuals: 3742
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 604
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GenotypeQuality
all individuals: 7230
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 632
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variant carriers: 0

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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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1934
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variant carriers: 0

GenotypeQuality
all individuals: 110
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variant carriers: 0

GenotypeQuality
all individuals: 462
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variant carriers: 0

GenotypeQuality
all individuals: 5850
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 1
allele frequency: 8.730574471800244e-5
allele num: 11454
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63968
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14434
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8638
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9708
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.79e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.807e0

MQRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 2.319e0

DP
type: SiteQuality
SIO_000300: 1.771859e6

QD
type: SiteQuality
SIO_000300: 6.16e0

MQ
type: SiteQuality
SIO_000300: 4.989e1

GenotypeQuality
all individuals: 4296
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 116
bin: 5.75e1
variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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: 18

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: 460
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14288
num of homozygotes: 0

Latino
type: Population
allele count: 19
allele frequency: 1.664039236293571e-3
allele num: 11418
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8634
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6552
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63558
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.73e0

VQSLOD
type: SiteQuality
SIO_000300: -1.627e1

MQRankSum
type: SiteQuality
SIO_000300: -6.71e-1

FS
type: SiteQuality
SIO_000300: 5.1099e1

DP
type: SiteQuality
SIO_000300: 1.752167e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-2

QD
type: SiteQuality
SIO_000300: 6.5e0

MQ
type: SiteQuality
SIO_000300: 3.266e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 5

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14006
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9434
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.55718381650207e-5
allele num: 62780
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.937e0

FS
type: SiteQuality
SIO_000300: 7.330500000000001e1

DP
type: SiteQuality
SIO_000300: 1.721091e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.01e-1

QD
type: SiteQuality
SIO_000300: 5.99e0

VQSLOD
type: SiteQuality
SIO_000300: -2.825e1

MQ
type: SiteQuality
SIO_000300: 3.192e1

GenotypeQuality
all individuals: 741
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6532
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.127583749109053e-5
allele num: 14030
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62720
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9402
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 3.486e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.073e0

VQSLOD
type: SiteQuality
SIO_000300: 2.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

DP
type: SiteQuality
SIO_000300: 1.717379e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.304e0

QD
type: SiteQuality
SIO_000300: 8.800000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.073e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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bin: 3.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 231
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GenotypeQuality
all individuals: 1859
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13916
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11326
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: 2
allele frequency: 3.203485392106612e-5
allele num: 62432
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6530
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9330
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.4e-2

DP
type: SiteQuality
SIO_000300: 1.704397e6

MQ
type: SiteQuality
SIO_000300: 4.015e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.318e0

VQSLOD
type: SiteQuality
SIO_000300: -2.537e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.55e-1

QD
type: SiteQuality
SIO_000300: 2.17e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 8.25e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5662
bin: 2.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61752
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11264
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9240
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13776
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16198001394376e-4
allele num: 8606
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6510
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.477e0

DP
type: SiteQuality
SIO_000300: 1.673152e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.4e-2

FS
type: SiteQuality
SIO_000300: 8.766e0

MQ
type: SiteQuality
SIO_000300: 3.318e1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

QD
type: SiteQuality
SIO_000300: 8.050000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 616
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61518
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9194
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6498
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.303534910896874e-5
allele num: 13692
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 2.283e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.66384e6

MQ
type: SiteQuality
SIO_000300: 3.818e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.103e0

VQSLOD
type: SiteQuality
SIO_000300: -3.518e0

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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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 661
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11188
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.299604047514298e-4
allele num: 9092
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: 6474
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13634
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60840
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.04e-1

MQ
type: SiteQuality
SIO_000300: 3.39e1

VQSLOD
type: SiteQuality
SIO_000300: -4.462e0

FS
type: SiteQuality
SIO_000300: 1.1485e1

MQRankSum
type: SiteQuality
SIO_000300: 8.47e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-3

DP
type: SiteQuality
SIO_000300: 1.641873e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 2.138e1

GenotypeQuality
all individuals: 1627
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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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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variant carriers: 0

GenotypeQuality
all individuals: 498
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variant carriers: 0

GenotypeQuality
all individuals: 1004
bin: 8.25e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11172
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13688
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9036
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.632485e6

VQSLOD
type: SiteQuality
SIO_000300: 1.3e0

QD
type: SiteQuality
SIO_000300: 1.364e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.65e-1

FS
type: SiteQuality
SIO_000300: 2.562e0

MQRankSum
type: SiteQuality
SIO_000300: 5.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.032e0

MQ
type: SiteQuality
SIO_000300: 3.514e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.459e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

GenotypeQuality
all individuals: 1413
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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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GenotypeQuality
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GenotypeQuality
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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: 271
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variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6432
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13710
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.167133520074697e-4
allele num: 8568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60102
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8958
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 838
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.984725965858041e-5
allele num: 11130
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.486e0

DP
type: SiteQuality
SIO_000300: 1.626247e6

MQRankSum
type: SiteQuality
SIO_000300: -8.05e-1

FS
type: SiteQuality
SIO_000300: 2.0921e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.696e0

QD
type: SiteQuality
SIO_000300: 1.208e1

MQ
type: SiteQuality
SIO_000300: 3.678e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.61e0

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: 3

GenotypeQuality
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variant carriers: 7

GenotypeQuality
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GenotypeQuality
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variant carriers: 250

GenotypeQuality
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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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bin: 7.25e1
variant carriers: 2

Other
type: Population
allele count: 1
allele frequency: 1.196172248803828e-3
allele num: 836
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 10
allele frequency: 1.556662515566625e-3
allele num: 6424
num of homozygotes: 1

African
type: Population
allele count: 2
allele frequency: 2.232641214556821e-4
allele num: 8958
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 264
allele frequency: 4.397654584221748e-3
allele num: 60032
num of homozygotes: 21

South Asian
type: Population
allele count: 18
allele frequency: 1.308710193398284e-3
allele num: 13754
num of homozygotes: 1

East Asian
type: Population
allele count: 1
allele frequency: 1.167406023815083e-4
allele num: 8566
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.593244699964068e-4
allele num: 11132
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.441e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.999e0

VQSLOD
type: SiteQuality
SIO_000300: 4.29e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.3e-1

QD
type: SiteQuality
SIO_000300: 1.766e1

MQ
type: SiteQuality
SIO_000300: 3.56e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.09e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-2

DP
type: SiteQuality
SIO_000300: 1.632496e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6422
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16795141322121e-4
allele num: 8562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59874
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11110
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13836
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8932
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.622177e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.3e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.05e0

FS
type: SiteQuality
SIO_000300: 1.0443e1

MQ
type: SiteQuality
SIO_000300: 3.623e1

MQRankSum
type: SiteQuality
SIO_000300: 9.340000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.92e-1

QD
type: SiteQuality
SIO_000300: 4.72e0

GenotypeQuality
all individuals: 1000
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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
all individuals: 1253
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GenotypeQuality
all individuals: 799
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10946
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9060
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.720933434294762e-5
allele num: 58108
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14392
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
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MQRankSum
type: SiteQuality
SIO_000300: 2.96e0

MQ
type: SiteQuality
SIO_000300: 3.926e1

FS
type: SiteQuality
SIO_000300: 3.208e1

ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 6.96e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.9e0

DP
type: SiteQuality
SIO_000300: 1.615385e6

VQSLOD
type: SiteQuality
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