7-99032743-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032743
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032743
    reference: chr 7
allele count: 1
allele frequency: 8.481764206955047e-6
allele num: 117900
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.123A>T
  hgvsp: ENST00000292478.4:c.123A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.455A>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.123A>T
  hgvsp: ENST00000430982.1:c.123A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.270A>T
  hgvsp: ENST00000413834.1:c.270A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.123A>T
  hgvsp: ENST00000419981.1:c.123A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.270A>T
  hgvsp: ENST00000555673.1:c.270A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.123A>T
  hgvsp: ENST00000430029.1:c.123A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1429
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2939
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14066
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27991
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9076
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1359
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 479
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1249
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2970
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro90Pro
num of homozygotes: 0
population: South Asian
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
reference allele: T
site quality: QD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

7-99032747-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032747
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032747
    reference: chr 7
allele count: 4
allele frequency: 3.39656607170151e-5
allele num: 117766
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.266G>A
  hgvsp: ENSP00000400168.1:p.Arg89Gln
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.451G>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.119G>A
  hgvsp: ENSP00000408059.1:p.Arg40Gln
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.119G>A
  hgvsp: ENSP00000390530.1:p.Arg40Gln
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.266G>A
  hgvsp: ENSP00000450995.1:p.Arg89Gln
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.119G>A
  hgvsp: ENSP00000401600.1:p.Arg40Gln
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.119G>A
  hgvsp: ENSP00000292478.4:p.Arg40Gln
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2836
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14231
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2631
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1424
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9090
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2861
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg89Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-99032748-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032748
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032748
    reference: chr 7
allele count: 2
allele frequency: 1.699033250080704e-5
allele num: 117714
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.450C>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.118C>T
  hgvsp: ENSP00000408059.1:p.Arg40Trp
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.265C>T
  hgvsp: ENSP00000450995.1:p.Arg89Trp
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.118C>T
  hgvsp: ENSP00000292478.4:p.Arg40Trp
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.118C>T
  hgvsp: ENSP00000390530.1:p.Arg40Trp
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.118C>T
  hgvsp: ENSP00000401600.1:p.Arg40Trp
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.265C>T
  hgvsp: ENSP00000400168.1:p.Arg89Trp
  variant of: http://identifiers.org/hgnc/38844
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 475
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9143
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1439
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28000
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 241
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2518
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 419
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6511
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg89Trp
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

7-99032756-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032756
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032756
    reference: chr 7
allele count: 1
allele frequency: 8.48147645542136e-6
allele num: 117904
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.110G>A
  hgvsp: ENSP00000292478.4:p.Gly37Glu
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.110G>A
  hgvsp: ENSP00000390530.1:p.Gly37Glu
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.442G>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.110G>A
  hgvsp: ENSP00000401600.1:p.Gly37Glu
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.257G>A
  hgvsp: ENSP00000400168.1:p.Gly86Glu
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.257G>A
  hgvsp: ENSP00000450995.1:p.Gly86Glu
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.110G>A
  hgvsp: ENSP00000408059.1:p.Gly37Glu
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2583
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2330
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1397
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28183
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14617
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 440
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1182
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42433
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1099
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6581
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly86Glu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

7-99032766-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032766
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032766
    reference: chr 7
allele count: 1
allele frequency: 8.482771491101573e-6
allele num: 117886
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.247G>A
  hgvsp: ENSP00000400168.1:p.Gly83Ser
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.100G>A
  hgvsp: ENSP00000401600.1:p.Gly34Ser
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.100G>A
  hgvsp: ENSP00000292478.4:p.Gly34Ser
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.100G>A
  hgvsp: ENSP00000408059.1:p.Gly34Ser
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.100G>A
  hgvsp: ENSP00000390530.1:p.Gly34Ser
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.247G>A
  hgvsp: ENSP00000450995.1:p.Gly83Ser
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.432G>A
  variant of: http://identifiers.org/hgnc/38844
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1312
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28349
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1983
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15001
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1080
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43084
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2416
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gly83Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/7-99032772-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032772
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032772
    reference: chr 7
allele count: 1
allele frequency: 8.483491126268282e-6
allele num: 117876
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.241G>T
  hgvsp: ENSP00000400168.1:p.Ala81Ser
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.426G>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.94G>T
  hgvsp: ENSP00000390530.1:p.Ala32Ser
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.94G>T
  hgvsp: ENSP00000401600.1:p.Ala32Ser
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.94G>T
  hgvsp: ENSP00000408059.1:p.Ala32Ser
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.94G>T
  hgvsp: ENSP00000292478.4:p.Ala32Ser
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.241G>T
  hgvsp: ENSP00000450995.1:p.Ala81Ser
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1391
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43737
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala81Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum

7-99032781-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032781
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032781
    reference: chr 7
allele count: 77
allele frequency: 6.525091944477399e-4
allele num: 118006
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.85G>A
  hgvsp: ENSP00000408059.1:p.Ala29Thr
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.232G>A
  hgvsp: ENSP00000400168.1:p.Ala78Thr
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.85G>A
  hgvsp: ENSP00000292478.4:p.Ala29Thr
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.85G>A
  hgvsp: ENSP00000390530.1:p.Ala29Thr
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.85G>A
  hgvsp: ENSP00000401600.1:p.Ala29Thr
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.417G>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.232G>A
  hgvsp: ENSP00000450995.1:p.Ala78Thr
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 9.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 15730
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 28586
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 9191
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 800
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2066
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44316
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala78Thr
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: South Asian
reference allele: C
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

7-99032782-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032782
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032782
    reference: chr 7
allele count: 1
allele frequency: 8.470699849221542e-6
allele num: 118054
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.84A>C
  hgvsp: ENSP00000408059.1:p.Arg28Ser
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.84A>C
  hgvsp: ENSP00000390530.1:p.Arg28Ser
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.231A>C
  hgvsp: ENSP00000400168.1:p.Arg77Ser
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.84A>C
  hgvsp: ENSP00000292478.4:p.Arg28Ser
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.84A>C
  hgvsp: ENSP00000401600.1:p.Arg28Ser
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.416A>C
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.231A>C
  hgvsp: ENSP00000450995.1:p.Arg77Ser
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9205
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1427
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 420
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15782
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28631
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44290
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg77Ser
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ

7-99032784-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032784
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032784
    reference: chr 7
allele count: 1
allele frequency: 8.465680132741865e-6
allele num: 118124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.82A>G
  hgvsp: ENSP00000408059.1:p.Arg28Gly
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.82A>G
  hgvsp: ENSP00000292478.4:p.Arg28Gly
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.229A>G
  hgvsp: ENSP00000450995.1:p.Arg77Gly
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.414A>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.82A>G
  hgvsp: ENSP00000390530.1:p.Arg28Gly
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.229A>G
  hgvsp: ENSP00000400168.1:p.Arg77Gly
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.82A>G
  hgvsp: ENSP00000401600.1:p.Arg28Gly
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1782
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9209
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 419
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1322
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28667
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15919
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 372
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6783
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg77Gly
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

7-99032787-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032787
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032787
    reference: chr 7
allele count: 4
allele frequency: 3.386042731859276e-5
allele num: 118132
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.226T>C
  hgvsp: ENSP00000400168.1:p.Cys76Arg
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.79T>C
  hgvsp: ENSP00000401600.1:p.Cys27Arg
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.79T>C
  hgvsp: ENSP00000292478.4:p.Cys27Arg
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.411T>C
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.79T>C
  hgvsp: ENSP00000408059.1:p.Cys27Arg
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.79T>C
  hgvsp: ENSP00000390530.1:p.Cys27Arg
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.226T>C
  hgvsp: ENSP00000450995.1:p.Cys76Arg
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1190
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9225
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16047
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28741
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44726
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1242
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 711
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Cys76Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS

7-99032789-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032789
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032789
    reference: chr 7
allele count: 4
allele frequency: 3.385240352064997e-5
allele num: 118160
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.77C>G
  hgvsp: ENSP00000390530.1:p.Pro26Arg
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.224C>G
  hgvsp: ENSP00000450995.1:p.Pro75Arg
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.77C>G
  hgvsp: ENSP00000401600.1:p.Pro26Arg
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.409C>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.224C>G
  hgvsp: ENSP00000400168.1:p.Pro75Arg
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.77C>G
  hgvsp: ENSP00000408059.1:p.Pro26Arg
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.77C>G
  hgvsp: ENSP00000292478.4:p.Pro26Arg
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28775
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1647
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1180
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9236
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16120
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6810
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 457
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro75Arg
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

7-99032791-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032791
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032791
    reference: chr 7
allele count: 1
allele frequency: 8.462241478522831e-6
allele num: 118172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.407C>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.222C>T
  hgvsp: ENST00000555673.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.75C>T
  hgvsp: ENST00000419981.1:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.75C>T
  hgvsp: ENST00000430982.1:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.75C>T
  hgvsp: ENST00000292478.4:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.75C>T
  hgvsp: ENST00000430029.1:c.75C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.222C>T
  hgvsp: ENST00000413834.1:c.222C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38844
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1172
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16233
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9242
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28820
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6823
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1380
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1250
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Asp74Asp
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

7-99032801-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032801
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032801
    reference: chr 7
allele count: 71
allele frequency: 6.001893555149793e-4
allele num: 118296
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.397A>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.65A>G
  hgvsp: ENSP00000408059.1:p.Gln22Arg
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.65A>G
  hgvsp: ENSP00000292478.4:p.Gln22Arg
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.65A>G
  hgvsp: ENSP00000390530.1:p.Gln22Arg
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.65A>G
  hgvsp: ENSP00000401600.1:p.Gln22Arg
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*145A>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.212A>G
  hgvsp: ENSP00000400168.1:p.Gln71Arg
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.212A>G
  hgvsp: ENSP00000450995.1:p.Gln71Arg
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16579
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 29075
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1116
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 757
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 9.75e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1278
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9255
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 487
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45628
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1412
  bin: 7.25e1
  variant carriers: 1
hgvs: p.Gln71Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

7-99032805-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032805
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032805
    reference: chr 7
allele count: 5
allele frequency: 4.225328308009532e-5
allele num: 118334
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.61C>T
  hgvsp: ENST00000419981.1:c.61C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.61C>T
  hgvsp: ENST00000430029.1:c.61C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*141C>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.208C>T
  hgvsp: ENST00000555673.1:c.208C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.61C>T
  hgvsp: ENST00000292478.4:c.61C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.208C>T
  hgvsp: ENST00000413834.1:c.208C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.61C>T
  hgvsp: ENST00000430982.1:c.61C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.393C>T
  variant of: http://identifiers.org/hgnc/38844
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1150
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1084
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1425
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6938
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu70Leu
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ

7-99032813-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032813
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032813
    reference: chr 7
allele count: 192
allele frequency: 1.620964473861948e-3
allele num: 118448
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.200T>C
  hgvsp: ENSP00000400168.1:p.Leu67Pro
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.200T>C
  hgvsp: ENSP00000450995.1:p.Leu67Pro
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*133T>C
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.53T>C
  hgvsp: ENSP00000390530.1:p.Leu18Pro
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.53T>C
  hgvsp: ENSP00000292478.4:p.Leu18Pro
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.53T>C
  hgvsp: ENSP00000408059.1:p.Leu18Pro
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.53T>C
  hgvsp: ENSP00000401600.1:p.Leu18Pro
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.385T>C
  variant of: http://identifiers.org/hgnc/38844
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 1.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1024
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 29374
  bin: 2.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.75e1
  variant carriers: 80
genotype depth: GenotypeDepth
  all individuals: 16925
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 8.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 6.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 9323
  bin: 3.25e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46239
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1439
  bin: 7.25e1
  variant carriers: 1
hgvs: p.Leu67Pro
num of homozygotes: 2
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP

7-99032816-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032816
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032816
    reference: chr 7
allele count: 2
allele frequency: 1.688846855367155e-5
allele num: 118424
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.50G>A
  hgvsp: ENSP00000401600.1:p.Gly17Glu
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.197G>A
  hgvsp: ENSP00000400168.1:p.Gly66Glu
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.50G>A
  hgvsp: ENSP00000390530.1:p.Gly17Glu
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*130G>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.50G>A
  hgvsp: ENSP00000408059.1:p.Gly17Glu
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.382G>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.50G>A
  hgvsp: ENSP00000292478.4:p.Gly17Glu
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.197G>A
  hgvsp: ENSP00000450995.1:p.Gly66Glu
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29536
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1377
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 425
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16954
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 284
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Gly66Glu
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ

7-99032820-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032820
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032820
    reference: chr 7
allele count: 2
allele frequency: 1.688105607886829e-5
allele num: 118476
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*126A>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.193A>G
  hgvsp: ENSP00000450995.1:p.Met65Val
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.46A>G
  hgvsp: ENSP00000292478.4:p.Met16Val
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.193A>G
  hgvsp: ENSP00000400168.1:p.Met65Val
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.46A>G
  hgvsp: ENSP00000408059.1:p.Met16Val
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.46A>G
  hgvsp: ENSP00000401600.1:p.Met16Val
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.378A>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.46A>G
  hgvsp: ENSP00000390530.1:p.Met16Val
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 446
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1373
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 772
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 955
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29651
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16979
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9408
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Met65Val
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-99032822-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032822
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032822
    reference: chr 7
allele count: 10
allele frequency: 8.437679300685139e-5
allele num: 118516
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.376C>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.44C>A
  hgvsp: ENSP00000408059.1:p.Pro15His
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.191C>A
  hgvsp: ENSP00000400168.1:p.Pro64His
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.191C>A
  hgvsp: ENSP00000450995.1:p.Pro64His
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.44C>A
  hgvsp: ENSP00000292478.4:p.Pro15His
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*124C>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.44C>A
  hgvsp: ENSP00000390530.1:p.Pro15His
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.44C>A
  hgvsp: ENSP00000401600.1:p.Pro15His
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1372
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 456
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9420
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7037
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1304
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Pro64His
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum

7-99032823-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032823
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032823
    reference: chr 7
allele count: 1
allele frequency: 8.44095551616443e-6
allele num: 118470
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.375C>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.43C>G
  hgvsp: ENSP00000390530.1:p.Pro15Ala
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.43C>G
  hgvsp: ENSP00000292478.4:p.Pro15Ala
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.190C>G
  hgvsp: ENSP00000450995.1:p.Pro64Ala
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.190C>G
  hgvsp: ENSP00000400168.1:p.Pro64Ala
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*123C>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.43C>G
  hgvsp: ENSP00000408059.1:p.Pro15Ala
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.43C>G
  hgvsp: ENSP00000401600.1:p.Pro15Ala
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 29715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 484
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 730
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1374
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9432
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16966
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro64Ala
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

7-99032825-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032825
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032825
    reference: chr 7
allele count: 3
allele frequency: 2.532714225411566e-5
allele num: 118450
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.373G>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.188G>A
  hgvsp: ENSP00000400168.1:p.Arg63His
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.41G>A
  hgvsp: ENSP00000408059.1:p.Arg14His
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.41G>A
  hgvsp: ENSP00000292478.4:p.Arg14His
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*121G>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.41G>A
  hgvsp: ENSP00000390530.1:p.Arg14His
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.188G>A
  hgvsp: ENSP00000450995.1:p.Arg63His
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.41G>A
  hgvsp: ENSP00000401600.1:p.Arg14His
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16885
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9478
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29783
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1383
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46478
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg63His
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum

7-99032826-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032826
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032826
    reference: chr 7
allele count: 2
allele frequency: 1.687735228097416e-5
allele num: 118502
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.372C>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.40C>T
  hgvsp: ENSP00000292478.4:p.Arg14Cys
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*120C>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.187C>T
  hgvsp: ENSP00000400168.1:p.Arg63Cys
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.40C>T
  hgvsp: ENSP00000408059.1:p.Arg14Cys
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.187C>T
  hgvsp: ENSP00000450995.1:p.Arg63Cys
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.40C>T
  hgvsp: ENSP00000390530.1:p.Arg14Cys
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.40C>T
  hgvsp: ENSP00000401600.1:p.Arg14Cys
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9469
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg63Cys
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ

7-99032834-GCGAACAGT-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032834
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032826
    reference: chr 7
allele count: 1
allele frequency: 8.436540343535924e-6
allele num: 118532
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.24_31delACTGTTCG
  hgvsp: ENSP00000408059.1:p.Leu9GlnfsTer17
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.24_31delACTGTTCG
  hgvsp: ENSP00000292478.4:p.Leu9GlnfsTer17
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.24_31delACTGTTCG
  hgvsp: ENSP00000390530.1:p.Leu9GlnfsTer17
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.24_31delACTGTTCG
  hgvsp: ENSP00000401600.1:p.Leu9GlnfsTer17
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.171_178delACTGTTCG
  hgvsp: ENSP00000400168.1:p.Leu58GlnfsTer17
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.356_363delACTGTTCG
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.171_178delACTGTTCG
  hgvsp: ENSP00000450995.1:p.Leu58GlnfsTer17
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9496
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 572
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29990
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu58GlnfsTer17
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
reference allele: GCGAACAGT
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-99032835-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032835
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032835
    reference: chr 7
allele count: 4
allele frequency: 3.375527426160338e-5
allele num: 118500
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.31G>T
  hgvsp: ENSP00000401600.1:p.Ala11Ser
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.31G>T
  hgvsp: ENSP00000408059.1:p.Ala11Ser
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.31G>T
  hgvsp: ENSP00000292478.4:p.Ala11Ser
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*111G>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.31G>T
  hgvsp: ENSP00000390530.1:p.Ala11Ser
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.363G>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.178G>T
  hgvsp: ENSP00000400168.1:p.Ala60Ser
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.178G>T
  hgvsp: ENSP00000450995.1:p.Ala60Ser
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1394
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30007
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16910
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46925
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala60Ser
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP

7-99032836-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032836
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032836
    reference: chr 7
allele count: 4
allele frequency: 3.375413488152299e-5
allele num: 118504
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*110C>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.30C>T
  hgvsp: ENST00000419981.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.177C>T
  hgvsp: ENST00000555673.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.30C>T
  hgvsp: ENST00000430982.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.177C>T
  hgvsp: ENST00000413834.1:c.177C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.362C>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.30C>T
  hgvsp: ENST00000430029.1:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.30C>T
  hgvsp: ENST00000292478.4:c.30C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9519
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30032
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16926
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Phe59Phe
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-99032840-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032840
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032840
    reference: chr 7
allele count: 1
allele frequency: 8.437821691952006e-6
allele num: 118514
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.173T>C
  hgvsp: ENSP00000400168.1:p.Leu58Pro
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.26T>C
  hgvsp: ENSP00000401600.1:p.Leu9Pro
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.358T>C
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*106T>C
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.26T>C
  hgvsp: ENSP00000292478.4:p.Leu9Pro
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.26T>C
  hgvsp: ENSP00000408059.1:p.Leu9Pro
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.26T>C
  hgvsp: ENSP00000390530.1:p.Leu9Pro
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.173T>C
  hgvsp: ENSP00000450995.1:p.Leu58Pro
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30082
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16923
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9509
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7113
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1047
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu58Pro
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP

7-99032844-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032844
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032844
    reference: chr 7
allele count: 1
allele frequency: 8.437821691952006e-6
allele num: 118514
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.354C>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.22C>T
  hgvsp: ENSP00000401600.1:p.Arg8Ter
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*102C>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.169C>T
  hgvsp: ENSP00000400168.1:p.Arg57Ter
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.22C>T
  hgvsp: ENSP00000292478.4:p.Arg8Ter
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.22C>T
  hgvsp: ENSP00000408059.1:p.Arg8Ter
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.169C>T
  hgvsp: ENSP00000450995.1:p.Arg57Ter
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.22C>T
  hgvsp: ENSP00000390530.1:p.Arg8Ter
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 530
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30116
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1320
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Arg57Ter
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD

7-99032847-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032847
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032847
    reference: chr 7
allele count: 1
allele frequency: 8.441810599537389e-6
allele num: 118458
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.19G>A
  hgvsp: ENSP00000390530.1:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.166G>A
  hgvsp: ENSP00000400168.1:p.Ala56Thr
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.19G>A
  hgvsp: ENSP00000401600.1:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.351G>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.19G>A
  hgvsp: ENSP00000292478.4:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.19G>A
  hgvsp: ENSP00000408059.1:p.Ala7Thr
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.166G>A
  hgvsp: ENSP00000450995.1:p.Ala56Thr
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*99G>A
  variant of: http://identifiers.org/hgnc/38844
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1382
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 552
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1317
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1457
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala56Thr
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

7-99032848-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032848
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032848
    reference: chr 7
allele count: 4
allele frequency: 3.376667229444538e-5
allele num: 118460
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.18C>T
  hgvsp: ENST00000430029.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.18C>T
  hgvsp: ENST00000292478.4:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.165C>T
  hgvsp: ENST00000413834.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.350C>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.18C>T
  hgvsp: ENST00000430982.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.18C>T
  hgvsp: ENST00000419981.1:c.18C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*98C>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.165C>T
  hgvsp: ENST00000555673.1:c.165C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu55Leu
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS

7-99032848-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032848
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032848
    reference: chr 7
allele count: 1
allele frequency: 8.441668073611346e-6
allele num: 118460
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.18C>G
  hgvsp: ENST00000430029.1:c.18C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.18C>G
  hgvsp: ENST00000419981.1:c.18C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.18C>G
  hgvsp: ENST00000292478.4:c.18C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.165C>G
  hgvsp: ENST00000555673.1:c.165C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.18C>G
  hgvsp: ENST00000430982.1:c.18C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.165C>G
  hgvsp: ENST00000413834.1:c.165C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.350C>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*98C>G
  variant of: http://identifiers.org/hgnc/38844
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu55Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

7-99032848-GAGTCTCACGA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032848
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032838
    reference: chr 7
allele count: 2
allele frequency: 1.688333614722269e-5
allele num: 118460
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsp: ENSP00000450995.1:p.Phe52SerfsTer33
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsp: ENSP00000400168.1:p.Phe52SerfsTer33
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.8_17delTCGTGAGACT
  hgvsp: ENSP00000390530.1:p.Phe3SerfsTer33
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.8_17delTCGTGAGACT
  hgvsp: ENSP00000292478.4:p.Phe3SerfsTer33
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.8_17delTCGTGAGACT
  hgvsp: ENSP00000408059.1:p.Phe3SerfsTer33
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.8_17delTCGTGAGACT
  hgvsp: ENSP00000401600.1:p.Phe3SerfsTer33
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  variant of: http://identifiers.org/hgnc/38844
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 810
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16889
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30105
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9521
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Phe52SerfsTer33
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
reference allele: GAGTCTCACGA
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD

7-99032854-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032854
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032854
    reference: chr 7
allele count: 1
allele frequency: 8.446373971653969e-6
allele num: 118394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.344G>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.12G>A
  hgvsp: ENST00000419981.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.159G>A
  hgvsp: ENST00000555673.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.12G>A
  hgvsp: ENST00000430029.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.12G>A
  hgvsp: ENST00000292478.4:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.159G>A
  hgvsp: ENST00000413834.1:c.159G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.12G>A
  hgvsp: ENST00000430982.1:c.12G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*92G>A
  variant of: http://identifiers.org/hgnc/38844
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val53Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: InbreedingCoeff

7-99032854-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032854
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032854
    reference: chr 7
allele count: 1
allele frequency: 8.446373971653969e-6
allele num: 118394
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.159G>C
  hgvsp: ENST00000413834.1:c.159G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*92G>C
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.12G>C
  hgvsp: ENST00000430982.1:c.12G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.344G>C
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.12G>C
  hgvsp: ENST00000292478.4:c.12G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.12G>C
  hgvsp: ENST00000419981.1:c.12G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.159G>C
  hgvsp: ENST00000555673.1:c.159G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.12G>C
  hgvsp: ENST00000430029.1:c.12G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1378
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9513
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val53Val
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

7-99032856-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032856
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032856
    reference: chr 7
allele count: 3
allele frequency: 2.534383131145879e-5
allele num: 118372
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.157G>C
  hgvsp: ENSP00000400168.1:p.Val53Leu
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.342G>C
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.10G>C
  hgvsp: ENSP00000292478.4:p.Val4Leu
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.10G>C
  hgvsp: ENSP00000401600.1:p.Val4Leu
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.10G>C
  hgvsp: ENSP00000408059.1:p.Val4Leu
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*90G>C
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.157G>C
  hgvsp: ENSP00000450995.1:p.Val53Leu
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.10G>C
  hgvsp: ENSP00000390530.1:p.Val4Leu
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30079
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Val53Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD

7-99032856-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032856
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032856
    reference: chr 7
allele count: 38
allele frequency: 3.21021863278478e-4
allele num: 118372
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.157G>A
  hgvsp: ENSP00000400168.1:p.Val53Met
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.157G>A
  hgvsp: ENSP00000450995.1:p.Val53Met
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.10G>A
  hgvsp: ENSP00000408059.1:p.Val4Met
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.10G>A
  hgvsp: ENSP00000401600.1:p.Val4Met
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.10G>A
  hgvsp: ENSP00000292478.4:p.Val4Met
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.10G>A
  hgvsp: ENSP00000390530.1:p.Val4Met
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.342G>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*90G>A
  variant of: http://identifiers.org/hgnc/38844
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30079
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 9510
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 581
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1312
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val53Met
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

7-99032857-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032857
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032857
    reference: chr 7
allele count: 2
allele frequency: 1.690017069172399e-5
allele num: 118342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.341C>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.9C>T
  hgvsp: ENST00000430029.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.156C>T
  hgvsp: ENST00000555673.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.9C>T
  hgvsp: ENST00000430982.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.9C>T
  hgvsp: ENST00000292478.4:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.9C>T
  hgvsp: ENST00000419981.1:c.9C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.156C>T
  hgvsp: ENST00000413834.1:c.156C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*89C>T
  variant of: http://identifiers.org/hgnc/38844
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30095
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16872
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9512
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1380
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1458
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Phe52Phe
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

7-99032871-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032871
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032871
    reference: chr 7
allele count: 1
allele frequency: 8.4774499830451e-6
allele num: 117960
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-6C>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*75C>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.327C>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.142C>G
  hgvsp: ENSP00000400168.1:p.Pro48Ala
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.-6C>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.142C>G
  hgvsp: ENSP00000450995.1:p.Pro48Ala
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.-6C>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.-6C>G
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 833
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29919
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16476
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9510
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46602
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro48Ala
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum

7-99032875-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032875
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032875
    reference: chr 7
allele count: 2
allele frequency: 1.701548409052238e-5
allele num: 117540
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*71A>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.-10A>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.-10A>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.138A>G
  hgvsp: ENST00000413834.1:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.323A>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-10A>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.138A>G
  hgvsp: ENST00000555673.1:c.138A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.-10A>G
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9470
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 713
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16203
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1393
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1298
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1687
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly46Gly
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-99032894-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032894
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032894
    reference: chr 7
allele count: 4
allele frequency: 3.485109868088591e-5
allele num: 114774
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.-26-3C>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3C>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3C>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.-26-3C>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3C>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.-26-3C>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3C>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*55-3C>G
  variant of: http://identifiers.org/hgnc/38844
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2105
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8309
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3864
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 5.75e1
  variant carriers: 0
hgvs: c.122-3C>G
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/7-99032896-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032896
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032896
    reference: chr 7
allele count: 1
allele frequency: 8.748600223964166e-6
allele num: 114304
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.-26-5T>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.-26-5T>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-5T>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-5T>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*55-5T>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.-26-5T>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-5T>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-5T>G
  variant of: http://identifiers.org/hgnc/38844
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7961
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14486
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27305
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2332
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1069
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4565
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1126
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.25e1
  variant carriers: 0
hgvs: c.122-5T>G
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum

7-99032905-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032905
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032905
    reference: chr 7
allele count: 1
allele frequency: 8.918697156719347e-6
allele num: 112124
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.-26-14C>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.-26-14C>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.-26-14C>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-14C>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-14C>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-14C>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*55-14C>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-14C>G
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1015
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9137
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3226
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23320
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6113
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 959
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1992
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34507
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8535
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1093
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: East Asian
population: African
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ

7-99032915-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032915
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032915
    reference: chr 7
allele count: 2
allele frequency: 1.806619453678277e-5
allele num: 110704
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-24C>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.-26-24C>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.-26-24C>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*55-24C>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-24C>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.-26-24C>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-24C>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-24C>A
  variant of: http://identifiers.org/hgnc/38844
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12076
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1265
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18605
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5025
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11071
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4457
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28260
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: DP

7-99032917-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032917
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032917
    reference: chr 7
allele count: 1
allele frequency: 9.062567969259769e-6
allele num: 110344
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-26C>T
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.-26-26C>T
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*55-26C>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-26C>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.-26-26C>T
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-26C>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.-26-26C>T
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-26C>T
  variant of: http://identifiers.org/hgnc/22198
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14474
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1335
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 843
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17335
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1337
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

7-99032919-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032919
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032919
    reference: chr 7
allele count: 2
allele frequency: 1.821062407808715e-5
allele num: 109826
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.-26-28C>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-28C>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-28C>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-28C>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.-26-28C>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-28C>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.-26-28C>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*55-28C>A
  variant of: http://identifiers.org/hgnc/38844
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4020
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8158
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15507
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 453
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3420
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11816
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 567
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3965
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

7-99032933-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032933
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032933
    reference: chr 7
allele count: 1
allele frequency: 9.406452826639075e-6
allele num: 106310
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.-26-42A>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-42A>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.-26-42A>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.-26-42A>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-42A>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*55-42A>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-42A>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-42A>G
  variant of: http://identifiers.org/hgnc/38844
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7731
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5179
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 721
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16864
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15635
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8813
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 679
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11388
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 404
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2040
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

7-99032936-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032936
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032936
    reference: chr 7
allele count: 2
allele frequency: 1.905197378448407e-5
allele num: 104976
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-45A>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.-26-45A>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-45A>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-45A>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.-26-45A>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-45A>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.-26-45A>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*55-45A>G
  variant of: http://identifiers.org/hgnc/38844
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6392
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16722
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2226
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15283
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10963
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5697
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3341
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 361
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10660
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1434
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4305
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-99032939-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99032939
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99032938
    reference: chr 7
allele count: 3
allele frequency: 2.907765672856977e-5
allele num: 103172
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000408059
  ensembl transcript: ENST00000430029
  gene symbol: PTCD1
  hgvsc: ENST00000430029.1:c.-26-49delT
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.-26-49delT
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*55-49delT
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.-26-49delT
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-49delT
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-49delT
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-49delT
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-49delT
  variant of: http://identifiers.org/hgnc/38844
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1680
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11609
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6014
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5833
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16634
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15074
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8815
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4809
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7600
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6968
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: CA
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP

7-99036283-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99036283
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99036283
    reference: chr 7
allele count: 12
allele frequency: 1.201441730076091e-3
allele num: 9988
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3392C>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.-120C>T
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.-27+32C>T
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3392C>T
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3392C>T
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*54+2730C>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3392C>T
  variant of: http://identifiers.org/hgnc/38844
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1331
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1614
  bin: 7.5e0
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: MQ

7-99036289-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99036289
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99036289
    reference: chr 7
allele count: 1
allele frequency: 9.852216748768474e-5
allele num: 10150
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*54+2724G>C
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3398G>C
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.-126G>C
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3398G>C
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3398G>C
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.-27+26G>C
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3398G>C
  variant of: http://identifiers.org/hgnc/22198
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1692
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

7-99036289-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99036289
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99036289
    reference: chr 7
allele count: 3
allele frequency: 2.955665024630542e-4
allele num: 10150
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3398G>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*54+2724G>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.-27+26G>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3398G>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3398G>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3398G>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.-126G>A
  variant of: http://identifiers.org/hgnc/22198
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 970
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 374
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 296
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 332
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD

7-99036341-GAC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99036341
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99036339
    reference: chr 7
allele count: 1
allele frequency: 9.379103357719002e-5
allele num: 10662
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.-180_-179delGT
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3452_-26-3451delGT
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3452_122-3451delGT
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3452_307-3451delGT
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3452_122-3451delGT
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.-55_-54delGT
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*54+2670_*54+2671delGT
  variant of: http://identifiers.org/hgnc/38844
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2723
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 768
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2405
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
reference allele: GAC
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-99036343-CG-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99036343
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99036342
    reference: chr 7
allele count: 2
allele frequency: 1.876172607879925e-4
allele num: 10660
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3453delC
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3453delC
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.-56delC
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3453delC
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.-181delC
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*54+2669delC
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3453delC
  variant of: http://identifiers.org/hgnc/38844
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 769
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
population: African
population: European (Finnish)
reference allele: CG
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum

7-99036345-G-GCA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99036345
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99036347
    reference: chr 7
allele count: 1
allele frequency: 9.373828271466067e-5
allele num: 10668
alternate allele: GCA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3455_307-3454insTG
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*54+2667_*54+2668insTG
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.-183_-182insTG
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3455_122-3454insTG
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3455_122-3454insTG
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3455_-26-3454insTG
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.-58_-57insTG
  variant of: http://identifiers.org/hgnc/22198
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2897
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1454
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 770
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2401
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2615
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

7-99036357-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99036357
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99036357
    reference: chr 7
allele count: 2
allele frequency: 1.869508319312021e-4
allele num: 10698
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3466G>C
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3466G>C
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3466G>C
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.-194G>C
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.-69G>C
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3466G>C
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*54+2656G>C
  variant of: http://identifiers.org/hgnc/38844
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2697
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3092
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2663
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 426
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

7-99036360-TC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99036360
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99036359
    reference: chr 7
allele count: 1
allele frequency: 9.344047841524949e-5
allele num: 10702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3470delG
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3470delG
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3470delG
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3470delG
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.-198delG
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.-73delG
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*54+2652delG
  variant of: http://identifiers.org/hgnc/38844
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 778
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: TC
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

7-99036361-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99036361
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99036361
    reference: chr 7
allele count: 4
allele frequency: 3.736920777279522e-4
allele num: 10704
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3470G>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*54+2652G>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3470G>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000401600
  ensembl transcript: ENST00000419981
  gene symbol: PTCD1
  hgvsc: ENST00000419981.1:c.-198G>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.-73G>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3470G>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3470G>A
  variant of: http://identifiers.org/hgnc/22198
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2691
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2397
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-99036380-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99036380
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99036380
    reference: chr 7
allele count: 1
allele frequency: 9.314456035767511e-5
allele num: 10736
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3489G>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3489G>T
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3489G>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.-92G>T
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3489G>T
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*54+2633G>T
  variant of: http://identifiers.org/hgnc/38844
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2699
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1470
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3958
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 787
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 917
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

7-99036390-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99036390
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99036390
    reference: chr 7
allele count: 1
allele frequency: 9.305788200260562e-5
allele num: 10746
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.-102A>T
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*54+2623A>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3499A>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3499A>T
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3499A>T
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3499A>T
  variant of: http://identifiers.org/hgnc/38844
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 789
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3945
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2693
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2399
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

7-99036418-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99036418
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99036418
    reference: chr 7
allele count: 1
allele frequency: 9.300595238095238e-5
allele num: 10752
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3527T>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*54+2595T>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3527T>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.-130T>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3527T>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3527T>A
  variant of: http://identifiers.org/hgnc/22198
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4308
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2394
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 916
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3063
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

7-99036430-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99036430
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99036430
    reference: chr 7
allele count: 6
allele frequency: 5.580357142857143e-4
allele num: 10752
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3539C>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3539C>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3539C>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3539C>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*54+2583C>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.-142C>G
  variant of: http://identifiers.org/hgnc/22198
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2532
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD

7-99036430-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99036430
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99036430
    reference: chr 7
allele count: 1
allele frequency: 9.300595238095238e-5
allele num: 10752
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3539C>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*54+2583C>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3539C>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000292478
  ensembl transcript: ENST00000292478
  gene symbol: PTCD1
  hgvsc: ENST00000292478.4:c.-142C>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3539C>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3539C>A
  variant of: http://identifiers.org/hgnc/38844
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4483
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1479
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2532
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2381
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1947
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

7-99036669-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99036669
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99036669
    reference: chr 7
allele count: 1
allele frequency: 1.419204677698618e-5
allele num: 70462
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3778C>T
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3778C>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3778C>T
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*54+2344C>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000160917
  ensembl protein: ENSP00000395311
  ensembl transcript: ENST00000436336
  gene symbol: CPSF4
  hgvsc: ENST00000436336.2:c.-37G>A
  variant of: http://identifiers.org/hgnc/2327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3778C>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000160917
  ensembl protein: ENSP00000396060
  ensembl transcript: ENST00000451876
  gene symbol: CPSF4
  hgvsc: ENST00000451876.1:c.-37G>A
  variant of: http://identifiers.org/hgnc/2327
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5151
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14447
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6180
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11610
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1608
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4232
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4427
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1706
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

7-99036671-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99036671
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99036671
    reference: chr 7
allele count: 1
allele frequency: 1.409522735601725e-5
allele num: 70946
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3780C>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000160917
  ensembl protein: ENSP00000395311
  ensembl transcript: ENST00000436336
  gene symbol: CPSF4
  hgvsc: ENST00000436336.2:c.-35G>A
  variant of: http://identifiers.org/hgnc/2327
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*54+2342C>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000160917
  ensembl protein: ENSP00000396060
  ensembl transcript: ENST00000451876
  gene symbol: CPSF4
  hgvsc: ENST00000451876.1:c.-35G>A
  variant of: http://identifiers.org/hgnc/2327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3780C>T
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3780C>T
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3780C>T
  variant of: http://identifiers.org/hgnc/38844
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18391
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5809
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4613
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12578
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14013
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4062
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1481
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13858
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1433
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17526
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1429
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 571
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5947
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: DP
site quality: VQSLOD

7-99036673-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99036673
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99036673
    reference: chr 7
allele count: 274
allele frequency: 3.817432010699956e-3
allele num: 71776
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000160917
  ensembl protein: ENSP00000396060
  ensembl transcript: ENST00000451876
  gene symbol: CPSF4
  hgvsc: ENST00000451876.1:c.-33G>A
  variant of: http://identifiers.org/hgnc/2327
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*54+2340C>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3782C>T
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3782C>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3782C>T
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3782C>T
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000160917
  ensembl protein: ENSP00000395311
  ensembl transcript: ENST00000436336
  gene symbol: CPSF4
  hgvsc: ENST00000436336.2:c.-33G>A
  variant of: http://identifiers.org/hgnc/2327
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 674
  bin: 3.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18406
  bin: 7.5e0
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 5548
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4338
  bin: 1.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 3.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 13244
  bin: 2.25e1
  variant carriers: 49
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13638
  bin: 1.25e1
  variant carriers: 73
genotype depth: GenotypeDepth
  all individuals: 4284
  bin: 2.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 6.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1335
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 4290
  bin: 2.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 5.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 17780
  bin: 2.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 5.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1291
  bin: 4.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 5764
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 7.25e1
  variant carriers: 3
num of homozygotes: 1
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ
site quality: BaseQRankSum

7-99036679-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99036679
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99036679
    reference: chr 7
allele count: 1
allele frequency: 1.359952129685035e-5
allele num: 73532
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*54+2334G>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3788G>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000160917
  ensembl protein: ENSP00000395311
  ensembl transcript: ENST00000436336
  gene symbol: CPSF4
  hgvsc: ENST00000436336.2:c.-27C>T
  variant of: http://identifiers.org/hgnc/2327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3788G>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000160917
  ensembl protein: ENSP00000396060
  ensembl transcript: ENST00000451876
  gene symbol: CPSF4
  hgvsc: ENST00000451876.1:c.-27C>T
  variant of: http://identifiers.org/hgnc/2327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3788G>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3788G>A
  variant of: http://identifiers.org/hgnc/22198
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4793
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15771
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18212
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4966
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1694
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 253
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5122
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1001
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 331
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1071
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3992
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

7-99036682-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99036682
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99036682
    reference: chr 7
allele count: 1
allele frequency: 1.331487004686834e-5
allele num: 75104
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3791C>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3791C>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*54+2331C>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000160917
  ensembl protein: ENSP00000396060
  ensembl transcript: ENST00000451876
  gene symbol: CPSF4
  hgvsc: ENST00000451876.1:c.-24G>C
  variant of: http://identifiers.org/hgnc/2327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3791C>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000160917
  ensembl protein: ENSP00000395311
  ensembl transcript: ENST00000436336
  gene symbol: CPSF4
  hgvsc: ENST00000436336.2:c.-24G>C
  variant of: http://identifiers.org/hgnc/2327
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3791C>G
  variant of: http://identifiers.org/hgnc/38844
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5416
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18062
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11301
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17100
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3066
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3799
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4743
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 285
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17774
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1058
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 780
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

7-99036687-TG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99036687
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99036686
    reference: chr 7
allele count: 1
allele frequency: 1.294062839691495e-5
allele num: 77276
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3797delC
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000160917
  ensembl protein: ENSP00000396060
  ensembl transcript: ENST00000451876
  gene symbol: CPSF4
  hgvsc: ENST00000451876.1:c.-15delG
  variant of: http://identifiers.org/hgnc/2327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000160917
  ensembl protein: ENSP00000395311
  ensembl transcript: ENST00000436336
  gene symbol: CPSF4
  hgvsc: ENST00000436336.2:c.-15delG
  variant of: http://identifiers.org/hgnc/2327
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*54+2325delC
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3797delC
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3797delC
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3797delC
  variant of: http://identifiers.org/hgnc/38844
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17234
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9903
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3990
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2195
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16970
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22251
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 950
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 724
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: TG
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

7-99036688-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99036688
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99036688
    reference: chr 7
allele count: 8
allele frequency: 1.018511445522369e-4
allele num: 78546
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3797C>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000160917
  ensembl protein: ENSP00000396060
  ensembl transcript: ENST00000451876
  gene symbol: CPSF4
  hgvsc: ENST00000451876.1:c.-18G>C
  variant of: http://identifiers.org/hgnc/2327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3797C>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3797C>G
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*54+2325C>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3797C>G
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000160917
  ensembl protein: ENSP00000395311
  ensembl transcript: ENST00000436336
  gene symbol: CPSF4
  hgvsc: ENST00000436336.2:c.-18G>C
  variant of: http://identifiers.org/hgnc/2327
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 20131
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17082
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6447
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3678
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2394
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9520
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1021
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3920
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 733
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23596
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 712
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17309
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3494
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

7-99036690-G-GGCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99036690
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99036693
    reference: chr 7
allele count: 3
allele frequency: 3.898230203487617e-5
allele num: 76958
alternate allele: GGCC
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3802_122-3800dupGGC
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3802_307-3800dupGGC
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000160917
  ensembl protein: ENSP00000395311
  ensembl transcript: ENST00000436336
  gene symbol: CPSF4
  hgvsc: ENST00000436336.2:c.-3_-1dupGCC
  variant of: http://identifiers.org/hgnc/2327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3802_122-3800dupGGC
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3802_-26-3800dupGGC
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*54+2320_*54+2322dupGGC
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000160917
  ensembl protein: ENSP00000396060
  ensembl transcript: ENST00000451876
  gene symbol: CPSF4
  hgvsc: ENST00000451876.1:c.-3_-1dupGCC
  variant of: http://identifiers.org/hgnc/2327
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 19504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9083
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16075
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3654
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3865
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16048
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1576
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

7-99036690-GGCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99036690
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99036687
    reference: chr 7
allele count: 47
allele frequency: 6.107227318797266e-4
allele num: 76958
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3802_122-3800delGGC
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000160917
  ensembl protein: ENSP00000396060
  ensembl transcript: ENST00000451876
  gene symbol: CPSF4
  hgvsc: ENST00000451876.1:c.-3_-1delGCC
  variant of: http://identifiers.org/hgnc/2327
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*54+2320_*54+2322delGGC
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000160917
  ensembl protein: ENSP00000395311
  ensembl transcript: ENST00000436336
  gene symbol: CPSF4
  hgvsc: ENST00000436336.2:c.-3_-1delGCC
  variant of: http://identifiers.org/hgnc/2327
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3802_-26-3800delGGC
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3802_307-3800delGGC
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3802_122-3800delGGC
  variant of: http://identifiers.org/hgnc/22198
canonical: false
consequence: 5' UTR
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3070
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 19504
  bin: 2.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 9083
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 16075
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7138
  bin: 2.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 3.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3494
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16048
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 21855
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 5.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 3654
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1894
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 8.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
reference allele: GGCC
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

7-99036693-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99036693
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99036693
    reference: chr 7
allele count: 1
allele frequency: 1.275803118062821e-5
allele num: 78382
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3802G>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000160917
  ensembl protein: ENSP00000396060
  ensembl transcript: ENST00000451876
  gene symbol: CPSF4
  hgvsc: ENST00000451876.1:c.-13C>T
  variant of: http://identifiers.org/hgnc/2327
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*54+2320G>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3802G>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000160917
  ensembl protein: ENSP00000395311
  ensembl transcript: ENST00000436336
  gene symbol: CPSF4
  hgvsc: ENST00000436336.2:c.-13C>T
  variant of: http://identifiers.org/hgnc/2327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3802G>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3802G>A
  variant of: http://identifiers.org/hgnc/38844
canonical: false
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15615
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1633
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8707
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7730
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3157
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3279
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3722
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22327
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: DP

7-99036699-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 99036699
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 99036699
    reference: chr 7
allele count: 8
allele frequency: 9.032607713846988e-5
allele num: 88568
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000416954
  ensembl transcript: ENST00000451138
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000451138.1:c.*54+2314G>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl protein: ENSP00000400168
  ensembl transcript: ENST00000413834
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000413834.1:c.122-3808G>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000390530
  ensembl transcript: ENST00000430982
  gene symbol: PTCD1
  hgvsc: ENST00000430982.1:c.-26-3808G>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000160917
  ensembl protein: ENSP00000396060
  ensembl transcript: ENST00000451876
  gene symbol: CPSF4
  hgvsc: ENST00000451876.1:c.-7C>T
  variant of: http://identifiers.org/hgnc/2327
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000160917
  ensembl protein: ENSP00000395311
  ensembl transcript: ENST00000436336
  gene symbol: CPSF4
  hgvsc: ENST00000436336.2:c.-7C>T
  variant of: http://identifiers.org/hgnc/2327
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000106246
  ensembl protein: ENSP00000450995
  ensembl transcript: ENST00000555673
  gene symbol: PTCD1
  hgvsc: ENST00000555673.1:c.122-3808G>A
  variant of: http://identifiers.org/hgnc/22198
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248919
  ensembl transcript: ENST00000437572
  gene symbol: ATP5J2-PTCD1
  hgvsc: ENST00000437572.1:n.307-3808G>A
  variant of: http://identifiers.org/hgnc/38844
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000160917
  ensembl protein: ENSP00000292476
  ensembl transcript: ENST00000292476
  gene symbol: CPSF4
  hgvsc: ENST00000292476.5:c.-7C>T
  variant of: http://identifiers.org/hgnc/2327
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24866
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2075
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2290
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13734
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9525
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2668
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2525
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14061
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum

GenotypeQuality
all individuals: 1259
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6665
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 379
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 154
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 248
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41417
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 870
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1387
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 196
bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15910
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8416
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6542
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.545499505440158e-5
allele num: 64704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10000
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.251e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.1e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.94e0

VQSLOD
type: SiteQuality
SIO_000300: 1.31e0

MQRankSum
type: SiteQuality
SIO_000300: 8.3e-2

DP
type: SiteQuality
SIO_000300: 1.541892e6

GenotypeQuality
all individuals: 171
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1360
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 380
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6560
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 276
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1241
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41336
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64670
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: 6544
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.736676568233443e-5
allele num: 11446
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15820
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.004807692307692e-4
allele num: 9984
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8418
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.97e-1

QD
type: SiteQuality
SIO_000300: 1.258e1

VQSLOD
type: SiteQuality
SIO_000300: 7.18e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.85e-1

DP
type: SiteQuality
SIO_000300: 1.542822e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 1334
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41729
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 281
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 493
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 220
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1197
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 858
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2829
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15822
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.187648456057007e-4
allele num: 8420
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6538
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9978
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11436
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.546981838433217e-5
allele num: 64642
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.49e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 1.546313e6

QD
type: SiteQuality
SIO_000300: 1.335e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

FS
type: SiteQuality
SIO_000300: 2.847e0

VQSLOD
type: SiteQuality
SIO_000300: 1.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

GenotypeQuality
all individuals: 148
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 792
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 397
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 575
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 141
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1218
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2637
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 330
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9966
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64802
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.327512022272843e-5
allele num: 15804
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 4.81e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

FS
type: SiteQuality
SIO_000300: 6.884e0

DP
type: SiteQuality
SIO_000300: 1.547947e6

MQRankSum
type: SiteQuality
SIO_000300: 5.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e0

QD
type: SiteQuality
SIO_000300: 1.152e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.31e-1

GenotypeQuality
all individuals: 164
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 314
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 700
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6595
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1224
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1321
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 8.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6558
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.712319219376198e-5
allele num: 11478
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8440
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64824
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9942
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15768
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

DP
type: SiteQuality
SIO_000300: 1.55283e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.47e0

FS
type: SiteQuality
SIO_000300: 4.889e0

VQSLOD
type: SiteQuality
SIO_000300: 6.0e-2

QD
type: SiteQuality
SIO_000300: 1.555e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.72e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

GenotypeQuality
all individuals: 2296
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 586
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 569
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 185
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 645
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6638
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8432
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6562
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9936
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15770
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11470
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: 1.542543345468008e-5
allele num: 64828
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

DP
type: SiteQuality
SIO_000300: 1.556667e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.699e0

VQSLOD
type: SiteQuality
SIO_000300: -1.182e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.610000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.468e1

MQ
type: SiteQuality
SIO_000300: 5.703e1

MQRankSum
type: SiteQuality
SIO_000300: 1.79e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e-1

GenotypeQuality
all individuals: 690
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1218
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6731
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 387
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 74
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 644
bin: 9.75e1
variant carriers: 77

GenotypeQuality
all individuals: 1338
bin: 7.25e1
variant carriers: 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: 64902
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.712319219376198e-5
allele num: 11478
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9906
num of homozygotes: 0

East Asian
type: Population
allele count: 76
allele frequency: 9.017560512577124e-3
allele num: 8428
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15842
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.234e1

MQ
type: SiteQuality
SIO_000300: 5.974e1

FS
type: SiteQuality
SIO_000300: 6.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

DP
type: SiteQuality
SIO_000300: 1.565076e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.907e0

GenotypeQuality
all individuals: 182
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 561
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 568
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 34
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2013
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6766
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 376
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 788
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1352
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540879534038029e-5
allele num: 64898
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15890
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -1.128e0

MQRankSum
type: SiteQuality
SIO_000300: -1.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.231e0

QD
type: SiteQuality
SIO_000300: 1.313e1

DP
type: SiteQuality
SIO_000300: 1.561689e6

FS
type: SiteQuality
SIO_000300: 7.805e0

VQSLOD
type: SiteQuality
SIO_000300: 5.3e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 210
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2004
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1361
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 567
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 759
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44668
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 186
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9918
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15926
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: 0
allele frequency: 0.0e0
allele num: 8428
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.712319219376198e-5
allele num: 11478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64918
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.61e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.368e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.84e-1

DP
type: SiteQuality
SIO_000300: 1.563223e6

QD
type: SiteQuality
SIO_000300: 6.6e0

FS
type: SiteQuality
SIO_000300: 8.202999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.939e1

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

GenotypeQuality
all individuals: 1929
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 192
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 569
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 482
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6794
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1364
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8426
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.622353702505316e-5
allele num: 64902
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15950
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.008267795926598e-4
allele num: 9918
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

DP
type: SiteQuality
SIO_000300: 1.565577e6

QD
type: SiteQuality
SIO_000300: 1.212e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.415e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 1.483e0

GenotypeQuality
all individuals: 675
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 216
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 570
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1909
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 184
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1378
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 44804
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15960
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.162568558575214e-5
allele num: 64908
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8424
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9930
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.566856e6

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.61e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.21e-1

FS
type: SiteQuality
SIO_000300: 1.316e0

MQRankSum
type: SiteQuality
SIO_000300: 7.32e-1

QD
type: SiteQuality
SIO_000300: 1.356e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

GenotypeQuality
all individuals: 394
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45076
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 169
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 178
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 551
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1881
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 181
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 9.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8420
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11480
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15956
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.540215014015957e-5
allele num: 64926
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9928
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

QD
type: SiteQuality
SIO_000300: 2.98e0

FS
type: SiteQuality
SIO_000300: 5.477e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.292e0

VQSLOD
type: SiteQuality
SIO_000300: -2.581e0

MQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

MQ
type: SiteQuality
SIO_000300: 5.839e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.024e0

DP
type: SiteQuality
SIO_000300: 1.567965e6

GenotypeQuality
all individuals: 1256
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 306
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1669
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6889
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 629
bin: 9.75e1
variant carriers: 70

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 584
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 89
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 207
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 57
allele frequency: 8.777332922697875e-4
allele num: 64940
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8412
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.132404181184669e-3
allele num: 11480
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.005025125628141e-4
allele num: 9950
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6576
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16054
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.5e-3

QD
type: SiteQuality
SIO_000300: 1.292e1

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: 1.82e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.96e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.73e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.76e-1

DP
type: SiteQuality
SIO_000300: 1.577661e6

GenotypeQuality
all individuals: 118
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1597
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 109
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 400
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 208
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45860
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1268
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 2.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 589
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 562
bin: 9.75e1
variant carriers: 5

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

African
type: Population
allele count: 4
allele frequency: 4.022526146419951e-4
allele num: 9944
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64942
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.710801393728223e-5
allele num: 11480
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8410
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.577844e6

QD
type: SiteQuality
SIO_000300: 1.226e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.18e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.594e0

MQRankSum
type: SiteQuality
SIO_000300: -9.2e-2

MQ
type: SiteQuality
SIO_000300: 5.946e1

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6976
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 53
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1425
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 269
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 209
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 1

GenotypeQuality
all individuals: 304
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 405
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1278
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 691
bin: 9.75e1
variant carriers: 189

GenotypeQuality
all individuals: 116
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16174
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.401360544217687e-3
allele num: 882
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.484320557491289e-4
allele num: 11480
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.538935056940597e-5
allele num: 64980
num of homozygotes: 0

African
type: Population
allele count: 184
allele frequency: 1.84961801367109e-2
allele num: 9948
num of homozygotes: 2

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8406
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.086e0

VQSLOD
type: SiteQuality
SIO_000300: 3.88e0

FS
type: SiteQuality
SIO_000300: 5.24e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.5e-2

MQ
type: SiteQuality
SIO_000300: 5.953e1

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.59e-2

QD
type: SiteQuality
SIO_000300: 1.139e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

DP
type: SiteQuality
SIO_000300: 1.592165e6

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

GenotypeQuality
all individuals: 505
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 46363
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1368
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 260
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 592
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 71
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7010
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 175
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1285
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 9.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9932
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.236399604352127e-4
allele num: 16176
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64972
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.6e-1

QD
type: SiteQuality
SIO_000300: 1.052e1

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.97e-1

DP
type: SiteQuality
SIO_000300: 1.582711e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -7.804e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46577
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7029
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1280
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 447
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1454
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1304
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 593
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9922
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64964
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16246
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.38038562247084e-4
allele num: 8402
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.37e-1

DP
type: SiteQuality
SIO_000300: 1.585175e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

QD
type: SiteQuality
SIO_000300: 1.099e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-2

GenotypeQuality
all individuals: 593
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1455
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 511
bin: 9.75e1
variant carriers: 10

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46679
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1245
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64982
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: 0
allele frequency: 0.0e0
allele num: 16266
num of homozygotes: 0

African
type: Population
allele count: 10
allele frequency: 1.007049345417925e-3
allele num: 9930
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.006e1

FS
type: SiteQuality
SIO_000300: 4.972e0

DP
type: SiteQuality
SIO_000300: 1.586689e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.43e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.126e0

GenotypeQuality
all individuals: 594
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 210
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1191
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 7025
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 46364
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 219
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1306
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 177
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9924
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.539835545563734e-5
allele num: 64942
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQ
type: SiteQuality
SIO_000300: 5.982e1

FS
type: SiteQuality
SIO_000300: 3.291e0

MQRankSum
type: SiteQuality
SIO_000300: 3.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.144e0

QD
type: SiteQuality
SIO_000300: 8.460000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 3.63e-1

DP
type: SiteQuality
SIO_000300: 1.586149e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.34e-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

Other
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allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9922
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16260
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.619933472957989e-5
allele num: 64936
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -9.694e-1

ClippingRankSum
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.923e1

DP
type: SiteQuality
SIO_000300: 1.587702e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 3.269e0

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.21e-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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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11476
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: 1
allele frequency: 1.53950366401872e-5
allele num: 64956
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.137228427642077e-5
allele num: 16294
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9922
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.072e0

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0

FS
type: SiteQuality
SIO_000300: 4.291e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: 5.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.588466e6

VQSLOD
type: SiteQuality
SIO_000300: 2.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.539645881447267e-5
allele num: 64950
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9890
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.590702e6

MQ
type: SiteQuality
SIO_000300: 5.37e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.375e0

MQRankSum
type: SiteQuality
SIO_000300: -4.976e0

FS
type: SiteQuality
SIO_000300: 1.6408e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 3.32e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.03e-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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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9890
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
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European (Non-Finnish)
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allele count: 4
allele frequency: 6.160480517480364e-5
allele num: 64930
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 9.029999999999999e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 1.21e0

VQSLOD
type: SiteQuality
SIO_000300: -6.066e-1

MQ
type: SiteQuality
SIO_000300: 5.934e1

FS
type: SiteQuality
SIO_000300: 1.0475e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.56e-1

DP
type: SiteQuality
SIO_000300: 1.591678e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
allele frequency: 1.74246384387524e-4
allele num: 11478
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.110975311659741e-5
allele num: 16364
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6580
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.540167570231641e-5
allele num: 64928
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 888
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African
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allele frequency: 0.0e0
allele num: 9880
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VQSLOD
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.44e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
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QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.976e1

ReadPosRankSum
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SIO_000300: -1.93e-1

ClippingRankSum
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SIO_000300: 4.1e-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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East Asian
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.10798924993892e-5
allele num: 16372
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64944
num of homozygotes: 0

African
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allele frequency: 0.0e0
allele num: 9870
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Other
type: Population
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allele frequency: 0.0e0
allele num: 888
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.96e1

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
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MQRankSum
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FS
type: SiteQuality
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VQSLOD
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QD
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ReadPosRankSum
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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allele num: 888
num of homozygotes: 0

African
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.539693293096015e-5
allele num: 64948
num of homozygotes: 0

East Asian
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allele count: 0
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Latino
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South Asian
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BaseQRankSum
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SIO_000300: 6.1e-2

ReadPosRankSum
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InbreedingCoeff
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ClippingRankSum
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MQ
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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DP
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VQSLOD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9826
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8370
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.540262460723307e-5
allele num: 64924
num of homozygotes: 0

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

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
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South Asian
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QD
type: SiteQuality
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BaseQRankSum
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FS
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VQSLOD
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DP
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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MQ
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SIO_000300: 6.0e1

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9828
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.520218911523259e-4
allele num: 6578
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.62092973106189e-5
allele num: 64922
num of homozygotes: 0

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

BaseQRankSum
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SIO_000300: -9.75e-1

MQRankSum
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MQ
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ClippingRankSum
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SIO_000300: -4.51e-1

QD
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SIO_000300: 1.003e1

VQSLOD
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DP
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InbreedingCoeff
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SIO_000300: 2.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.85e-1

FS
type: SiteQuality
SIO_000300: 5.77e-1

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.540309910353963e-5
allele num: 64922
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9828
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.939e1

QD
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SIO_000300: 1.003e1

FS
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ClippingRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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MQRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

VQSLOD
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SIO_000300: 1.95e0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8368
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64922
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16406
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11472
num of homozygotes: 0

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

African
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allele count: 2
allele frequency: 2.035002035002035e-4
allele num: 9828
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.51e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.85e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.77e-1

DP
type: SiteQuality
SIO_000300: 1.591741e6

MQRankSum
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SIO_000300: -8.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.75e-1

MQ
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SIO_000300: 5.939e1

QD
type: SiteQuality
SIO_000300: 1.003e1

GenotypeQuality
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variant carriers: 1

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

Other
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allele frequency: 0.0e0
allele num: 884
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64886
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

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

East Asian
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allele count: 1
allele frequency: 1.195314367678699e-4
allele num: 8366
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.985e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e0

BaseQRankSum
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MQRankSum
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DP
type: SiteQuality
SIO_000300: 1.590444e6

VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.373e1

FS
type: SiteQuality
SIO_000300: 5.702e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541164503899146e-5
allele num: 64886
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8366
num of homozygotes: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16414
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.985e1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.373e1

VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.590444e6

BaseQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.8e-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: 3

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8364
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.718395815170009e-5
allele num: 11470
num of homozygotes: 0

European (Non-Finnish)
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allele count: 2
allele frequency: 3.08289915836853e-5
allele num: 64874
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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DP
type: SiteQuality
SIO_000300: 1.591369e6

MQ
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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ClippingRankSum
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BaseQRankSum
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QD
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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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variant carriers: 38

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
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allele frequency: 1.133786848072562e-3
allele num: 882
num of homozygotes: 0

European (Non-Finnish)
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allele count: 8
allele frequency: 1.233159663347412e-4
allele num: 64874
num of homozygotes: 0

South Asian
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allele frequency: 1.766354001705445e-3
allele num: 16418
num of homozygotes: 0

East Asian
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DP
type: SiteQuality
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ReadPosRankSum
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QD
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BaseQRankSum
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InbreedingCoeff
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FS
type: SiteQuality
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MQRankSum
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VQSLOD
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ClippingRankSum
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MQ
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

East Asian
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allele count: 0
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Other
type: Population
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African
type: Population
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allele frequency: 1.022285831118381e-4
allele num: 9782
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Latino
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allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6570
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South Asian
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.541972491210757e-5
allele num: 64852
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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South Asian
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allele frequency: 6.090875867949811e-5
allele num: 16418
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6550
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Latino
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allele frequency: 0.0e0
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Other
type: Population
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East Asian
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FS
type: SiteQuality
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BaseQRankSum
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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MQRankSum
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DP
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VQSLOD
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ClippingRankSum
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SIO_000300: 4.28e-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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bin: 4.25e1
variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11420
num of homozygotes: 0

African
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allele count: 2
allele frequency: 2.094679514034353e-4
allele num: 9548
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 8350
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 64414
num of homozygotes: 0

Other
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allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.199999999999999e0

DP
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SIO_000300: 1.574393e6

MQ
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SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

MQRankSum
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SIO_000300: 4.45e-1

VQSLOD
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QD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.14e0

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

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

European (Non-Finnish)
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allele frequency: 6.360109393881575e-5
allele num: 62892
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.964e1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
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ClippingRankSum
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SIO_000300: 2.31e-1

FS
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InbreedingCoeff
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BaseQRankSum
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ReadPosRankSum
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SIO_000300: 2.1e-2

QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16176
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.597188947452484e-5
allele num: 62610
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6426
num of homozygotes: 0

East 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

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

DP
type: SiteQuality
SIO_000300: 1.477503e6

BaseQRankSum
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SIO_000300: 1.95e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

MQ
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QD
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InbreedingCoeff
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SIO_000300: -1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.820000000000001e-1

FS
type: SiteQuality
SIO_000300: 2.493e0

VQSLOD
type: SiteQuality
SIO_000300: 7.74e-1

ClippingRankSum
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SIO_000300: 1.38e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.629354449767002e-5
allele num: 61374
num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
allele num: 840
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 7916
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African
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
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SIO_000300: -3.0e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.48e-1

ClippingRankSum
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SIO_000300: -4.0e-2

BaseQRankSum
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MQRankSum
type: SiteQuality
SIO_000300: 6.01e-1

InbreedingCoeff
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SIO_000300: -2.3e-3

DP
type: SiteQuality
SIO_000300: 1.366384e6

QD
type: SiteQuality
SIO_000300: 8.699999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15942
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6286
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African
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allele count: 2
allele frequency: 2.287805994051705e-4
allele num: 8742
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 60536
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7792
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Latino
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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: 7.64e0

BaseQRankSum
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InbreedingCoeff
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SIO_000300: -2.8e-3

MQ
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 4.15e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.09e-1

DP
type: SiteQuality
SIO_000300: 1.258488e6

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 826
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.657385308936622e-5
allele num: 60336
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6272
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South Asian
type: Population
allele count: 0
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num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: 8.78e-1

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

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.205e1

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

East Asian
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South Asian
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allele num: 15898
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Other
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
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ReadPosRankSum
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ClippingRankSum
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DP
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MQ
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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MQRankSum
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VQSLOD
type: SiteQuality
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Other
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African
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East Asian
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num of homozygotes: 0

European (Non-Finnish)
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Latino
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South Asian
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European (Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.3e-3

FS
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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MQ
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QD
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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ReadPosRankSum
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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South Asian
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Other
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 2
allele frequency: 3.502872355331372e-5
allele num: 57096
num of homozygotes: 0

East Asian
type: Population
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ClippingRankSum
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MQ
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BaseQRankSum
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InbreedingCoeff
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VQSLOD
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QD
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
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MQRankSum
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ReadPosRankSum
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SIO_000300: 1.21e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 3

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5994
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 56084
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
allele num: 9672
num of homozygotes: 0

South Asian
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allele frequency: 1.946030098598858e-4
allele num: 15416
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
allele num: 7140
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African
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allele frequency: 0.0e0
allele num: 8080
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Other
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allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.1e-3

FS
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SIO_000300: 3.04e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.84e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-2

QD
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.81e0

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

MQ
type: SiteQuality
SIO_000300: 5.948e1

DP
type: SiteQuality
SIO_000300: 1.045554e6

GenotypeQuality
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variant carriers: 1

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

Latino
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allele frequency: 1.136363636363636e-2
allele num: 88
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 130
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African
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allele frequency: 4.945054945054945e-2
allele num: 182
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 4.105090311986864e-4
allele num: 2436
num of homozygotes: 0

South Asian
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allele frequency: 1.420051121840386e-4
allele num: 7042
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Other
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allele frequency: 0.0e0
allele num: 110
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.01e-1

DP
type: SiteQuality
SIO_000300: 1.18622e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.07e-2

FS
type: SiteQuality
SIO_000300: 2.239e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.01e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.45e-1

VQSLOD
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SIO_000300: 2.0e0

QD
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SIO_000300: 1.402e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 184
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 130
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South Asian
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allele frequency: 1.401345291479821e-4
allele num: 7136
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Other
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allele frequency: 0.0e0
allele num: 112
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2500
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Latino
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allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

DP
type: SiteQuality
SIO_000300: 1.22024e5

VQSLOD
type: SiteQuality
SIO_000300: -6.729000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.28e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-2

FS
type: SiteQuality
SIO_000300: 3.051e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

QD
type: SiteQuality
SIO_000300: 1.236e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 184
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South Asian
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allele num: 7136
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 112
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Latino
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
allele num: 130
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

FS
type: SiteQuality
SIO_000300: 3.051e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-2

DP
type: SiteQuality
SIO_000300: 1.22024e5

MQRankSum
type: SiteQuality
SIO_000300: 6.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -6.729000000000001e-1

QD
type: SiteQuality
SIO_000300: 1.236e1

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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African
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allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 3.736920777279522e-4
allele num: 2676
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Other
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South Asian
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allele frequency: 0.0e0
allele num: 7456
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BaseQRankSum
type: SiteQuality
SIO_000300: 6.929999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

FS
type: SiteQuality
SIO_000300: 1.579e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.98e-2

MQ
type: SiteQuality
SIO_000300: 5.728e1

MQRankSum
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DP
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SIO_000300: 1.43937e5

QD
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.708e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.26e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 2

GenotypeQuality
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variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2676
num of homozygotes: 0

Other
type: Population
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allele frequency: 0.0e0
allele num: 116
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7456
num of homozygotes: 0

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

Latino
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allele count: 1
allele frequency: 1.08695652173913e-2
allele num: 92
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African
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allele count: 1
allele frequency: 5.319148936170213e-3
allele num: 188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.01e-2

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.44086e5

QD
type: SiteQuality
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MQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -5.39e-1

MQ
type: SiteQuality
SIO_000300: 6.03e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.04e-1

FS
type: SiteQuality
SIO_000300: 6.207e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.86e-1

GenotypeQuality
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variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7462
num of homozygotes: 0

European (Finnish)
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allele frequency: NaN
allele num: 0
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: 0.0e0
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Latino
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 3.73134328358209e-4
allele num: 2680
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.44585e5

MQ
type: SiteQuality
SIO_000300: 5.681e1

InbreedingCoeff
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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VQSLOD
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ReadPosRankSum
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FS
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BaseQRankSum
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QD
type: SiteQuality
SIO_000300: 1.272e1

GenotypeQuality
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variant carriers: 2

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2700
num of homozygotes: 0

African
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allele frequency: 1.052631578947368e-2
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East Asian
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7466
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
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Other
type: Population
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allele num: 118
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FS
type: SiteQuality
SIO_000300: 2.943e0

DP
type: SiteQuality
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BaseQRankSum
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
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VQSLOD
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.309e1

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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variant carriers: 0

East Asian
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African
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Latino
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European (Finnish)
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allele frequency: NaN
allele num: 0
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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Other
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
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FS
type: SiteQuality
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BaseQRankSum
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QD
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MQRankSum
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MQ
type: SiteQuality
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ClippingRankSum
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DP
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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Latino
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allele frequency: 0.0e0
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African
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East Asian
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Other
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South Asian
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allele frequency: 2.677376171352075e-4
allele num: 7470
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European (Non-Finnish)
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allele frequency: 3.700962250185048e-4
allele num: 2702
num of homozygotes: 0

European (Finnish)
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allele frequency: NaN
allele num: 0
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MQRankSum
type: SiteQuality
SIO_000300: -8.81e-1

MQ
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

QD
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FS
type: SiteQuality
SIO_000300: 2.082e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.671e0

DP
type: SiteQuality
SIO_000300: 1.45974e5

VQSLOD
type: SiteQuality
SIO_000300: 1.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -4.88e-1

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

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

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

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

South Asian
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num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2718
num of homozygotes: 0

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

Other
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allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

QD
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VQSLOD
type: SiteQuality
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MQRankSum
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SIO_000300: -7.199999999999999e-2

FS
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MQ
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SIO_000300: 5.976e1

BaseQRankSum
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ClippingRankSum
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InbreedingCoeff
type: SiteQuality
SIO_000300: -5.13e-2

ReadPosRankSum
type: SiteQuality
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DP
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SIO_000300: 1.48224e5

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

South Asian
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allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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East Asian
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allele frequency: 7.575757575757576e-3
allele num: 132
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.949e1

VQSLOD
type: SiteQuality
SIO_000300: -1.524e0

DP
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MQRankSum
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InbreedingCoeff
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SIO_000300: -5.4e-2

FS
type: SiteQuality
SIO_000300: 8.388999999999999e0

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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SIO_000300: -5.75e-1

QD
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SIO_000300: 1.066e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
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: 0.0e0
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South Asian
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allele frequency: 1.334400854016547e-4
allele num: 7494
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2724
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e-1

FS
type: SiteQuality
SIO_000300: 8.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.89e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.938e1

VQSLOD
type: SiteQuality
SIO_000300: -3.144e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

DP
type: SiteQuality
SIO_000300: 1.48982e5

QD
type: SiteQuality
SIO_000300: 9.119999999999999e0

GenotypeQuality
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variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 8.006405124099279e-4
allele num: 7494
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 92
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 190
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2724
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 132
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.939e0

QD
type: SiteQuality
SIO_000300: 1.212e1

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 1.49862e5

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.52e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 190
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 1
allele frequency: 1.334400854016547e-4
allele num: 7494
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2724
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 132
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.4e-2

FS
type: SiteQuality
SIO_000300: 1.939e0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

DP
type: SiteQuality
SIO_000300: 1.49862e5

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.52e-2

MQ
type: SiteQuality
SIO_000300: 5.966e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.33e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.55e0

QD
type: SiteQuality
SIO_000300: 1.212e1

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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bin: 1.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5430
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.529084471421345e-5
allele num: 39540
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 468
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4934
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2828
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12266
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
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SIO_000300: 0.0e0

VQSLOD
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MQ
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -1.25e-2

DP
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MQRankSum
type: SiteQuality
SIO_000300: 5.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

QD
type: SiteQuality
SIO_000300: 8.33e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5048
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5012
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 12272
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 39820
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Other
type: Population
allele count: 1
allele frequency: 2.164502164502165e-3
allele num: 462
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2858
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.185e0

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.23e-2

BaseQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -2.266e0

ReadPosRankSum
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MQ
type: SiteQuality
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QD
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DP
type: SiteQuality
SIO_000300: 8.01497e5

VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 1

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

Latino
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allele count: 7
allele frequency: 1.356063541263076e-3
allele num: 5162
num of homozygotes: 0

South Asian
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allele count: 5
allele frequency: 4.046617028164455e-4
allele num: 12356
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East Asian
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 61
allele frequency: 2.104899930986888e-2
allele num: 2898
num of homozygotes: 0

African
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allele count: 1
allele frequency: 1.810282404055032e-4
allele num: 5524
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European (Non-Finnish)
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allele count: 198
allele frequency: 4.919010235516248e-3
allele num: 40252
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 4.291845493562232e-3
allele num: 466
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.89e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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ClippingRankSum
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VQSLOD
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QD
type: SiteQuality
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DP
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SIO_000300: 8.13026e5

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.418e0

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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Other
type: Population
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allele num: 494
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.852537977028529e-4
allele num: 5398
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
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allele num: 41286
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South Asian
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allele count: 0
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MQRankSum
type: SiteQuality
SIO_000300: 1.31e0

BaseQRankSum
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SIO_000300: -3.68e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

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

ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.07e-2

DP
type: SiteQuality
SIO_000300: 8.55021e5

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: 20
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GenotypeQuality
all individuals: 19529
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variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3102
num of homozygotes: 0

South Asian
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allele count: 0
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Latino
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5340
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.373267514714258e-5
allele num: 42136
num of homozygotes: 0

African
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 8.78836e5

ClippingRankSum
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SIO_000300: 1.16e0

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.828e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.2e-3

QD
type: SiteQuality
SIO_000300: 6.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.286e0

GenotypeQuality
all individuals: 17
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1985
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3579
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3254
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 763
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 596
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 136
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5942
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3110
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 522
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43324
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 1.671681711802073e-4
allele num: 5982
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12822
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5574
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.24664e5

BaseQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-2

QD
type: SiteQuality
SIO_000300: 2.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.808e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

GenotypeQuality
all individuals: 608
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 196
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 357
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2176
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2108
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 332
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3224
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 9.75e1
variant carriers: 7

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5664
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6068
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6124
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 4.648280136349551e-4
allele num: 12908
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 3.731343283582089e-3
allele num: 536
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3270
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43976
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

QD
type: SiteQuality
SIO_000300: 1.145e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.79e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.94e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.92e-1

FS
type: SiteQuality
SIO_000300: 9.07e-1

DP
type: SiteQuality
SIO_000300: 9.35306e5

GenotypeQuality
all individuals: 1043
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2189
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1061
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21855
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 798
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 239
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 1.688618709895306e-4
allele num: 5922
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5942
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5558
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.622781065088757e-5
allele num: 43264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12554
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.6891e5

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

FS
type: SiteQuality
SIO_000300: 3.67e0

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.29e-2

MQ
type: SiteQuality
SIO_000300: 5.956e1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.06e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.02e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-2

QD
type: SiteQuality
SIO_000300: 3.2e0

GenotypeQuality
all individuals: 25
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 1576
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1061
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 7.25e1
variant carriers: 11

GenotypeQuality
all individuals: 3865
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 984
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 798
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 9
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2189
bin: 3.75e1
variant carriers: 6

GenotypeQuality
all individuals: 959
bin: 4.75e1
variant carriers: 2

South Asian
type: Population
allele count: 9
allele frequency: 7.169029791301578e-4
allele num: 12554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 24
allele frequency: 5.547337278106509e-4
allele num: 43264
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 5.397625044980209e-4
allele num: 5558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 3.132832080200501e-4
allele num: 3192
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 5.048805116122518e-4
allele num: 5942
num of homozygotes: 0

Latino
type: Population
allele count: 7
allele frequency: 1.182033096926714e-3
allele num: 5922
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 526
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 9.6891e5

VQSLOD
type: SiteQuality
SIO_000300: -2.02e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.29e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -6.06e-1

FS
type: SiteQuality
SIO_000300: 3.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-2

MQ
type: SiteQuality
SIO_000300: 5.956e1

QD
type: SiteQuality
SIO_000300: 3.2e0

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.18e-1

GenotypeQuality
all individuals: 15
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3653
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1027
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1849
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 15548
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 583
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 317
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6164
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 536
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.917656373713381e-5
allele num: 12630
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44060
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6048
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5678
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.24e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.941e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.13e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.427e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.39e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.68e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

DP
type: SiteQuality
SIO_000300: 9.8787e5

GenotypeQuality
all individuals: 2210
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1499
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 334
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2055
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 720
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 448
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31454
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 473
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 402
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.021754073834459e-5
allele num: 49462
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13564
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6400
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6846
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7824
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 604
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.809720785935884e-3
allele num: 3868
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 7.93e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.9e-3

DP
type: SiteQuality
SIO_000300: 1.068499e6

QD
type: SiteQuality
SIO_000300: 8.630000000000001e0

VQSLOD
type: SiteQuality
SIO_000300: 4.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.82e-1