7-102949503-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949503
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949503
    reference: chr 7
allele count: 6
allele frequency: 4.951312097705892e-5
allele num: 121180
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*980G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.954G>A
  hgvsp: ENST00000249269.4:c.954G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.954G>A
  hgvsp: ENST00000428154.1:c.954G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.639G>A
  hgvsp: ENST00000420236.2:c.639G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*589G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.958G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*589G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*88G>A
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12711
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1822
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31756
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7525
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Thr318Thr
num of homozygotes: 0
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: DP

7-102949506-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949506
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949506
    reference: chr 7
allele count: 1
allele frequency: 8.254639107178234e-6
allele num: 121144
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*91G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.957G>A
  hgvsp: ENST00000249269.4:c.957G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*592G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.961G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*983G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.642G>A
  hgvsp: ENST00000420236.2:c.642G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.957G>A
  hgvsp: ENST00000428154.1:c.957G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*592G>A
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12694
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31764
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48647
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Leu319Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-102949508-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949508
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949508
    reference: chr 7
allele count: 28
allele frequency: 2.31190963736046e-4
allele num: 121112
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*594T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.959T>C
  hgvsp: ENSP00000249269.4:p.Ile320Thr
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.644T>C
  hgvsp: ENSP00000410393.2:p.Ile215Thr
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.959T>C
  hgvsp: ENSP00000390035.1:p.Ile320Thr
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.963T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*93T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*985T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*594T>C
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 12744
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12685
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31766
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ile320Thr
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

7-102949514-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949514
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949514
    reference: chr 7
allele count: 1
allele frequency: 8.266785708380868e-6
allele num: 120966
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*991A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.969A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.965A>G
  hgvsp: ENSP00000390035.1:p.Asn322Ser
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.650A>G
  hgvsp: ENSP00000410393.2:p.Asn217Ser
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*600A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*600A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*99A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.965A>G
  hgvsp: ENSP00000249269.4:p.Asn322Ser
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12676
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31765
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1044
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1238
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asn322Ser
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

7-102949522-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949522
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949522
    reference: chr 7
allele count: 3
allele frequency: 2.485995558354602e-5
allele num: 120676
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.973C>T
  hgvsp: ENSP00000390035.1:p.Arg325Cys
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*999C>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.658C>T
  hgvsp: ENSP00000410393.2:p.Arg220Cys
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*608C>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.977C>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.973C>T
  hgvsp: ENSP00000249269.4:p.Arg325Cys
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*608C>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*107C>T
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12673
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1040
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg325Cys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

7-102949523-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949523
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949523
    reference: chr 7
allele count: 1
allele frequency: 8.291873963515755e-6
allele num: 120600
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1000G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.974G>A
  hgvsp: ENSP00000390035.1:p.Arg325His
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.659G>A
  hgvsp: ENSP00000410393.2:p.Arg220His
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*108G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.978G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.974G>A
  hgvsp: ENSP00000249269.4:p.Arg325His
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*609G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*609G>A
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31724
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12667
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12321
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1041
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7465
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg325His
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD

7-102949525-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949525
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949525
    reference: chr 7
allele count: 1
allele frequency: 8.296138976920141e-6
allele num: 120538
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.976T>A
  hgvsp: ENSP00000390035.1:p.Ser326Thr
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*110T>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.980T>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.661T>A
  hgvsp: ENSP00000410393.2:p.Ser221Thr
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*611T>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1002T>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.976T>A
  hgvsp: ENSP00000249269.4:p.Ser326Thr
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*611T>A
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31715
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1808
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7470
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Ser326Thr
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

7-102949526-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949526
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949527
    reference: chr 7
allele count: 5
allele frequency: 4.150755437489623e-5
allele num: 120460
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.985dupT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.981dupT
  hgvsp: ENSP00000249269.4:p.Gly328TrpfsTer8
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.981dupT
  hgvsp: ENSP00000390035.1:p.Gly328TrpfsTer8
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*616dupT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.666dupT
  hgvsp: ENSP00000410393.2:p.Gly223TrpfsTer8
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1007dupT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*115dupT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*616dupT
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12216
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12671
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31673
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48007
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly328TrpfsTer8
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP

7-102949531-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949531
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949531
    reference: chr 7
allele count: 1
allele frequency: 8.330695279828055e-6
allele num: 120038
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.982G>C
  hgvsp: ENSP00000390035.1:p.Gly328Arg
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.986G>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*617G>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.667G>C
  hgvsp: ENSP00000410393.2:p.Gly223Arg
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1008G>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*617G>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.982G>C
  hgvsp: ENSP00000249269.4:p.Gly328Arg
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*116G>C
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31573
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1144
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gly328Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD

7-102949531-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949531
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949531
    reference: chr 7
allele count: 1
allele frequency: 8.330695279828055e-6
allele num: 120038
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.982G>T
  hgvsp: ENSP00000249269.4:p.Gly328Trp
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*617G>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.982G>T
  hgvsp: ENSP00000390035.1:p.Gly328Trp
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*116G>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.667G>T
  hgvsp: ENSP00000410393.2:p.Gly223Trp
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*617G>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.986G>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1008G>T
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11943
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12610
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1809
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31573
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1029
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly328Trp
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

7-102949535-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949535
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949535
    reference: chr 7
allele count: 14
allele frequency: 1.171058134671686e-4
allele num: 119550
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*621G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.990G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*120G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.986G>A
  hgvsp: ENSP00000390035.1:p.Gly329Glu
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.986G>A
  hgvsp: ENSP00000249269.4:p.Gly329Glu
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1012G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*621G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.671G>A
  hgvsp: ENSP00000410393.2:p.Gly224Glu
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11624
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12549
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31450
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1004
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7353
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Gly329Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

7-102949535-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949535
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949535
    reference: chr 7
allele count: 1
allele frequency: 8.36470096194061e-6
allele num: 119550
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*621G>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.986G>T
  hgvsp: ENSP00000390035.1:p.Gly329Val
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.671G>T
  hgvsp: ENSP00000410393.2:p.Gly224Val
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.990G>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.986G>T
  hgvsp: ENSP00000249269.4:p.Gly329Val
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*621G>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1012G>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*120G>T
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12549
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11624
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31450
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 453
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1031
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly329Val
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP

7-102949543-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949543
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949543
    reference: chr 7
allele count: 1
allele frequency: 8.47443263673497e-6
allele num: 118002
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*628+1G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.993+1G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1019+1G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.678+1G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*127+1G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*628+1G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.998G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.993+1G>A
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30871
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 211
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2974
  bin: 2.25e1
  variant carriers: 0
hgvs: c.993+1G>A
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-102949544-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949544
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949544
    reference: chr 7
allele count: 1
allele frequency: 8.538980445734779e-6
allele num: 117110
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*628+2T>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1019+2T>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*127+2T>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.678+2T>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*628+2T>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.999T>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.993+2T>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.993+2T>G
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10430
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2059
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1694
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2100
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44721
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 3.25e1
  variant carriers: 0
hgvs: c.993+2T>G
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS

7-102949546-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949546
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949546
    reference: chr 7
allele count: 7
allele frequency: 5.979328606816434e-5
allele num: 117070
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.993+4A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*127+4A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.1001A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*628+4A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.993+4A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*628+4A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.678+4A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1019+4A>G
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12109
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2068
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30426
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10485
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2104
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
hgvs: c.993+4A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/7-102949561-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949561
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949561
    reference: chr 7
allele count: 1
allele frequency: 8.968288133161142e-6
allele num: 111504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1019+19A>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.1016A>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.678+19A>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*127+19A>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.993+19A>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*628+19A>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*628+19A>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.993+19A>C
  variant of: http://identifiers.org/hgnc/9119
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 515
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

7-102949561-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949561
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949561
    reference: chr 7
allele count: 1
allele frequency: 8.968288133161142e-6
allele num: 111504
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*628+19A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.993+19A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.1016A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.678+19A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1019+19A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.993+19A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*628+19A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*127+19A>G
  variant of: http://identifiers.org/hgnc/9119
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5589
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8785
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10739
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1452
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 981
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39364
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9340
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD

7-102949570-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949570
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949570
    reference: chr 7
allele count: 78
allele frequency: 7.374491821877659e-4
allele num: 105770
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.678+28T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.993+28T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*127+28T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.993+28T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*628+28T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.1025T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*628+28T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1019+28T>C
  variant of: http://identifiers.org/hgnc/9119
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23280
  bin: 2.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 9349
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8988
  bin: 3.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 414
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7238
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7507
  bin: 2.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 1.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1257
  bin: 3.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33617
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 149
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1048
  bin: 9.75e1
  variant carriers: 78
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: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ

7-102949572-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949572
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949572
    reference: chr 7
allele count: 1
allele frequency: 9.618529134524748e-6
allele num: 103966
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.678+30A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.1027A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*628+30A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1019+30A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*127+30A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.993+30A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*628+30A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.993+30A>G
  variant of: http://identifiers.org/hgnc/9119
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7302
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8286
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1611
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8065
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10592
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1159
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31759
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4676
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
population: Latino
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

7-102949575-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949575
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949575
    reference: chr 7
allele count: 2
allele frequency: 1.975894092076665e-5
allele num: 101220
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.993+33G>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*628+33G>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*628+33G>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1019+33G>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.1030G>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*127+33G>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.993+33G>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.678+33G>C
  variant of: http://identifiers.org/hgnc/9119
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12579
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7251
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9264
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 339
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1046
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1818
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

7-102949580-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949580
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949580
    reference: chr 7
allele count: 6
allele frequency: 6.189012439915004e-5
allele num: 96946
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1019+38A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*628+38A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.1035A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.993+38A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*628+38A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.993+38A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.678+38A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*127+38A>G
  variant of: http://identifiers.org/hgnc/9119
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16073
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16451
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11009
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24180
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1620
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum

7-102949583-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949583
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949582
    reference: chr 7
allele count: 2
allele frequency: 2.130379207498935e-5
allele num: 93880
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.993+43delT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.678+43delT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1019+43delT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.993+43delT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.1040delT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*628+43delT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*127+43delT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*628+43delT
  variant of: http://identifiers.org/hgnc/9119
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13763
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5288
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20012
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 964
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
reference allele: AT
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP

7-102949587-T-TCATTATATAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949587
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949597
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 88814
alternate allele: TCATTATATAA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13599
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22354
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 691
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 318
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2628
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3147
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-102949589-ATG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949589
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949587
    reference: chr 7
allele count: 1
allele frequency: 1.150139166839188e-5
allele num: 86946
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*127+49_*127+50delGT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.993+49_993+50delGT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.1046_1047delGT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.678+49_678+50delGT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1019+49_*1019+50delGT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.993+49_993+50delGT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*628+49_*628+50delGT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*628+49_*628+50delGT
  variant of: http://identifiers.org/hgnc/9119
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3103
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14135
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 267
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3790
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23633
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2678
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31524
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2937
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: ATG
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ

7-102949593-T-TATATAACATGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949593
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949604
    reference: chr 7
allele count: 1
allele frequency: 1.186746416025824e-5
allele num: 84264
alternate allele: TATATAACATGC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3046
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24985
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2448
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14830
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1245
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32497
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/7-102949596-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949596
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949596
    reference: chr 7
allele count: 1
allele frequency: 1.235849522962084e-5
allele num: 80916
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.993+54C>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.678+54C>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.1051C>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*628+54C>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*628+54C>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1019+54C>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.993+54C>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*127+54C>A
  variant of: http://identifiers.org/hgnc/9119
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15275
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4200
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25835
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5565
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2803
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3761
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 353
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4857
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff

7-102949598-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949598
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949598
    reference: chr 7
allele count: 1
allele frequency: 1.277334968322093e-5
allele num: 78288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*127+56T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*628+56T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.678+56T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1019+56T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.993+56T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.1053T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.993+56T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*628+56T>C
  variant of: http://identifiers.org/hgnc/9119
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15768
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5054
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26042
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3836
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4227
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 875
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQ

7-102949599-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949599
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949599
    reference: chr 7
allele count: 1
allele frequency: 1.270971021860702e-5
allele num: 78680
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1019+57A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*628+57A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.1054A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*127+57A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.678+57A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.993+57A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*628+57A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.993+57A>G
  variant of: http://identifiers.org/hgnc/9119
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4382
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5081
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3764
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26038
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2322
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15845
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1689
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 956
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4351
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
population: African
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP

7-102949600-AATATAAGTTCTTTGTAAGAATCCTTTTTTAAAGTGGCAGAATAGAGTCTTGTACTGTGAATTCTGACTTAAAAATATAAACTGATCCTGG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949600
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949510
    reference: chr 7
allele count: 1
allele frequency: 1.293560655059116e-5
allele num: 77306
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 25984
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15999
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 432
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1522
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5410
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4010
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 828
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1057
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4378
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6085
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 242
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: AATATAAGTTCTTTGTAAGAATCCTTTTTTAAAGTGGCAGAATAGAGTCTTGTACTGTGAATTCTGACTTAAAAATATAAACTGATCCTGG
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum

7-102949603-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949603
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949603
    reference: chr 7
allele count: 13
allele frequency: 1.753959901778245e-4
allele num: 74118
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.1058A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*628+61A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.993+61A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*628+61A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1019+61A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.993+61A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*127+61A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.678+61A>G
  variant of: http://identifiers.org/hgnc/9119
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 1.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25270
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7343
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1410
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 385
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum

7-102949603-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949603
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949603
    reference: chr 7
allele count: 1
allele frequency: 1.349199924444804e-5
allele num: 74118
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.1058A>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.993+61A>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.993+61A>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*628+61A>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*628+61A>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1019+61A>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*127+61A>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.678+61A>T
  variant of: http://identifiers.org/hgnc/9119
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4768
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25270
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3118
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16677
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29933
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4566
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1929
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD

7-102949604-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949604
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949604
    reference: chr 7
allele count: 1
allele frequency: 1.372306847811171e-5
allele num: 72870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.678+62T>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*628+62T>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.993+62T>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1019+62T>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.993+62T>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*628+62T>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.1059T>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*127+62T>A
  variant of: http://identifiers.org/hgnc/9119
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24827
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17024
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29161
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

7-102949604-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949604
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949604
    reference: chr 7
allele count: 2
allele frequency: 2.744613695622341e-5
allele num: 72870
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*628+62T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1019+62T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.1059T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.993+62T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.678+62T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*127+62T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.993+62T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*628+62T>C
  variant of: http://identifiers.org/hgnc/9119
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6631
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5102
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17024
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24827
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1640
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4622
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 961
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 496
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2191
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

7-102949620-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949620
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949620
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 51486
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*628+78A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1019+78A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*628+78A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.993+78A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.1075A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.678+78A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*127+78A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.993+78A>G
  variant of: http://identifiers.org/hgnc/9119
canonical: false
consequence: non coding transcript exon
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 899
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5829
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7803
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24555
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17097
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1799
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 969
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9496
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: QD
site quality: FS
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-102949621-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102949621
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102949621
    reference: chr 7
allele count: 1
allele frequency: 1.942200124300808e-5
allele num: 51488
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.993+79T>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1019+79T>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.993+79T>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000105819
  ensembl transcript: ENST00000498530
  gene symbol: PMPCB
  hgvsc: ENST00000498530.1:n.1076T>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*127+79T>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*628+79T>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.678+79T>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*628+79T>A
  variant of: http://identifiers.org/hgnc/9119
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 904
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5818
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2033
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7808
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24552
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17109
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 229
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14039
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
reference allele: T
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum

7-102950717-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950717
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950717
    reference: chr 7
allele count: 1627
allele frequency: 1.920715870992114e-2
allele num: 84708
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.994-45G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*629-45G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*128-45G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.679-45G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1020-45G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.994-45G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*629-45G>A
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 5.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 6212
  bin: 2.25e1
  variant carriers: 199
genotype depth: GenotypeDepth
  all individuals: 2574
  bin: 3.25e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 4696
  bin: 2.75e1
  variant carriers: 112
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8176
  bin: 1.75e1
  variant carriers: 454
genotype depth: GenotypeDepth
  all individuals: 942
  bin: 3.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2590
  bin: 2.5e0
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 18421
  bin: 1.25e1
  variant carriers: 618
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 4.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 15009
  bin: 7.5e0
  variant carriers: 381
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 4.75e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 11981
  bin: 2.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 4.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 333
  bin: 8.75e1
  variant carriers: 72
genotype quality: GenotypeQuality
  all individuals: 2480
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 7529
  bin: 3.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 8.25e1
  variant carriers: 37
genotype quality: GenotypeQuality
  all individuals: 1871
  bin: 7.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 5871
  bin: 3.75e1
  variant carriers: 8
num of homozygotes: 37
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
population: East Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-102950719-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950719
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950719
    reference: chr 7
allele count: 8
allele frequency: 9.361104610344021e-5
allele num: 85460
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.679-43C>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*128-43C>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*629-43C>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.994-43C>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1020-43C>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*629-43C>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.994-43C>A
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7288
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18311
  bin: 1.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7271
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6039
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1060
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS

7-102950719-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950719
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950719
    reference: chr 7
allele count: 1
allele frequency: 1.170138076293003e-5
allele num: 85460
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.994-43C>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.994-43C>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*128-43C>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.679-43C>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*629-43C>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1020-43C>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*629-43C>G
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4835
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7288
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2430
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15026
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7271
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2616
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 784
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3028
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9359
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1342
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6039
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2151
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

7-102950723-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950723
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950723
    reference: chr 7
allele count: 162
allele frequency: 1.875303868682425e-3
allele num: 86386
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.994-39T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.679-39T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.994-39T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1020-39T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*629-39T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*128-39T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*629-39T>C
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5726
  bin: 1.75e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17756
  bin: 1.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 5039
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2666
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 15134
  bin: 7.5e0
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9437
  bin: 2.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13954
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1123
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4833
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1630
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2082
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 305
  bin: 5.75e1
  variant carriers: 3
num of homozygotes: 1
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: QD

7-102950740-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950740
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950740
    reference: chr 7
allele count: 1
allele frequency: 1.062947766746742e-5
allele num: 94078
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1020-22T>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.679-22T>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.994-22T>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*128-22T>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*629-22T>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.994-22T>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*629-22T>G
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 24661
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 529
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12974
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8211
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2152
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 27331
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3581
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1584
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: T
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP

7-102950744-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950744
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950745
    reference: chr 7
allele count: 58
allele frequency: 6.41153191395282e-4
allele num: 90462
alternate allele: AT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.994-9dupT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.994-9dupT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*629-9dupT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.679-9dupT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*629-9dupT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*128-9dupT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1020-9dupT
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 1.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 8823
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22954
  bin: 2.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 1.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 3.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10279
  bin: 2.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 1.25e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 1225
  bin: 7.5e0
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 3155
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3246
  bin: 2.5e0
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1349
  bin: 4.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 3.25e1
  variant carriers: 6
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

7-102950744-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950744
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950743
    reference: chr 7
allele count: 108
allele frequency: 1.193871459839491e-3
allele num: 90462
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*128-9delT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.994-9delT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.994-9delT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.679-9delT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*629-9delT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*629-9delT
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1020-9delT
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 10279
  bin: 2.75e1
  variant carriers: 48
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 3.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5625
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 1.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8823
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22954
  bin: 2.25e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 454
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 812
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5049
  bin: 3.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3246
  bin: 2.5e0
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 1203
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 3.25e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1386
  bin: 4.25e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 22939
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 9886
  bin: 2.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 1.75e1
  variant carriers: 23
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: AT
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff

7-102950775-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950775
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950775
    reference: chr 7
allele count: 1
allele frequency: 8.318637074501714e-6
allele num: 120212
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1007A>G
  hgvsp: ENSP00000390035.1:p.Lys336Arg
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1007A>G
  hgvsp: ENSP00000249269.4:p.Lys336Arg
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1033A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*642A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*141A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*642A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.692A>G
  hgvsp: ENSP00000410393.2:p.Lys231Arg
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35491
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6255
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14590
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2042
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 596
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44568
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Lys336Arg
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum

7-102950776-GCTGGCC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950776
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950770
    reference: chr 7
allele count: 2
allele frequency: 1.662786830728301e-5
allele num: 120280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*144_*149delTGGCCC
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*645_*650delTGGCCC
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1010_1015delTGGCCC
  hgvsp: ENSP00000249269.4:p.Leu337_Ala338del
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*645_*650delTGGCCC
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.695_700delTGGCCC
  hgvsp: ENSP00000410393.2:p.Leu232_Ala233del
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1010_1015delTGGCCC
  hgvsp: ENSP00000390035.1:p.Leu337_Ala338del
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: inframe deletion
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1441
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6293
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 489
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6967
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1096
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu337_Ala338del
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: African
population: South Asian
reference allele: GCTGGCC
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

7-102950777-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950777
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950777
    reference: chr 7
allele count: 9
allele frequency: 7.476573403336214e-5
allele num: 120376
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*143C>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*644C>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1009C>T
  hgvsp: ENST00000428154.1:c.1009C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.694C>T
  hgvsp: ENST00000420236.2:c.694C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*644C>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1009C>T
  hgvsp: ENST00000249269.4:c.1009C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1035C>T
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35436
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14709
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6300
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 609
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6988
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44685
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu337Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

7-102950784-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950784
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950784
    reference: chr 7
allele count: 3
allele frequency: 2.483073714181662e-5
allele num: 120818
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1016A>G
  hgvsp: ENSP00000249269.4:p.Gln339Arg
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*651A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.701A>G
  hgvsp: ENSP00000410393.2:p.Gln234Arg
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*651A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*150A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1042A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1016A>G
  hgvsp: ENSP00000390035.1:p.Gln339Arg
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln339Arg
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-102950784-AGCTCACTTGTC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950784
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950773
    reference: chr 7
allele count: 2
allele frequency: 1.655382476121108e-5
allele num: 120818
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsp: ENSP00000390035.1:p.Leu340TrpfsTer6
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsp: ENSP00000249269.4:p.Leu340TrpfsTer6
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsp: ENSP00000410393.2:p.Leu235TrpfsTer6
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35416
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14984
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6376
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1435
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2047
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu340TrpfsTer6
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
reference allele: AGCTCACTTGTC
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ

7-102950785-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950785
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950785
    reference: chr 7
allele count: 1
allele frequency: 8.274857672448034e-6
allele num: 120848
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1017G>A
  hgvsp: ENST00000249269.4:c.1017G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1017G>A
  hgvsp: ENST00000428154.1:c.1017G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*652G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.702G>A
  hgvsp: ENST00000420236.2:c.702G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*652G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*151G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1043G>A
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35377
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15027
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7083
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Gln339Gln
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: MQ

7-102950790-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950790
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950790
    reference: chr 7
allele count: 1
allele frequency: 8.263233568560049e-6
allele num: 121018
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*657C>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.707C>T
  hgvsp: ENSP00000410393.2:p.Thr236Ile
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*156C>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1022C>T
  hgvsp: ENSP00000249269.4:p.Thr341Ile
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1048C>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1022C>T
  hgvsp: ENSP00000390035.1:p.Thr341Ile
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*657C>T
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15151
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6407
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1438
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45143
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1956
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7127
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Thr341Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: ClippingRankSum

7-102950792-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950792
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950792
    reference: chr 7
allele count: 1
allele frequency: 8.261595148791329e-6
allele num: 121042
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*158T>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1024T>A
  hgvsp: ENSP00000390035.1:p.Cys342Ser
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*659T>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.709T>A
  hgvsp: ENSP00000410393.2:p.Cys237Ser
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1024T>A
  hgvsp: ENSP00000249269.4:p.Cys342Ser
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*659T>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1050T>A
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35360
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15181
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 177
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6413
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45181
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Cys342Ser
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

7-102950796-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950796
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950796
    reference: chr 7
allele count: 2
allele frequency: 1.651527663088357e-5
allele num: 121100
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*663A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*162A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*663A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1028A>G
  hgvsp: ENSP00000390035.1:p.His343Arg
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1028A>G
  hgvsp: ENSP00000249269.4:p.His343Arg
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.713A>G
  hgvsp: ENSP00000410393.2:p.His238Arg
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1054A>G
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35298
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6437
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15253
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1967
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
hgvs: p.His343Arg
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: A
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

http://identifiers.org/exac.variant/7-102950801-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950801
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950801
    reference: chr 7
allele count: 1
allele frequency: 8.253549026081216e-6
allele num: 121160
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1033A>C
  hgvsp: ENSP00000249269.4:p.Asn345His
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*668A>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*167A>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.718A>C
  hgvsp: ENSP00000410393.2:p.Asn240His
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1033A>C
  hgvsp: ENSP00000390035.1:p.Asn345His
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*668A>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1059A>C
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6476
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15368
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45206
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2044
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Asn345His
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: A
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

7-102950802-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950802
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950802
    reference: chr 7
allele count: 29
allele frequency: 2.393410692768598e-4
allele num: 121166
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1060A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*669A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.719A>G
  hgvsp: ENSP00000410393.2:p.Asn240Ser
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1034A>G
  hgvsp: ENSP00000390035.1:p.Asn345Ser
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1034A>G
  hgvsp: ENSP00000249269.4:p.Asn345Ser
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*168A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*669A>G
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1443
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 613
  bin: 4.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 15366
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35144
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6482
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2072
  bin: 9.75e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7164
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn345Ser
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

7-102950814-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950814
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950814
    reference: chr 7
allele count: 1
allele frequency: 8.248375070111188e-6
allele num: 121236
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1046G>T
  hgvsp: ENSP00000249269.4:p.Ser349Ile
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1046G>T
  hgvsp: ENSP00000390035.1:p.Ser349Ile
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*180G>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.731G>T
  hgvsp: ENSP00000410393.2:p.Ser244Ile
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1072G>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*681G>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*681G>T
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1448
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15486
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6509
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35065
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1092
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ser349Ile
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: DP

7-102950824-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950824
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950824
    reference: chr 7
allele count: 2
allele frequency: 1.648913366091746e-5
allele num: 121292
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*190T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.741T>C
  hgvsp: ENST00000420236.2:c.741T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1082T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*691T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1056T>C
  hgvsp: ENST00000249269.4:c.1056T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*691T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1056T>C
  hgvsp: ENST00000428154.1:c.1056T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45336
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser352Ser
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum

7-102950824-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950824
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950824
    reference: chr 7
allele count: 1
allele frequency: 8.244566830458728e-6
allele num: 121292
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*190T>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*691T>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1082T>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1056T>G
  hgvsp: ENST00000428154.1:c.1056T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1056T>G
  hgvsp: ENST00000249269.4:c.1056T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*691T>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.741T>G
  hgvsp: ENST00000420236.2:c.741T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2046
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1972
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Ser352Ser
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ClippingRankSum

7-102950830-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950830
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950830
    reference: chr 7
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1062C>T
  hgvsp: ENST00000428154.1:c.1062C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1062C>T
  hgvsp: ENST00000249269.4:c.1062C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*697C>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.747C>T
  hgvsp: ENST00000420236.2:c.747C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1088C>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*196C>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*697C>T
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34969
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6518
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15623
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 436
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7180
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1944
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asn354Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

7-102950835-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950835
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950835
    reference: chr 7
allele count: 2
allele frequency: 1.64836976230508e-5
allele num: 121332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1067C>G
  hgvsp: ENSP00000390035.1:p.Ser356Cys
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1067C>G
  hgvsp: ENSP00000249269.4:p.Ser356Cys
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1093C>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*702C>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*702C>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*201C>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.752C>G
  hgvsp: ENSP00000410393.2:p.Ser251Cys
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45402
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser356Cys
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum

7-102950835-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950835
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950835
    reference: chr 7
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*702C>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1093C>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*201C>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1067C>T
  hgvsp: ENSP00000390035.1:p.Ser356Phe
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1067C>T
  hgvsp: ENSP00000249269.4:p.Ser356Phe
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*702C>T
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.752C>T
  hgvsp: ENSP00000410393.2:p.Ser251Phe
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34973
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1449
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45402
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser356Phe
num of homozygotes: 0
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

7-102950844-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950844
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950844
    reference: chr 7
allele count: 1
allele frequency: 8.240354664864776e-6
allele num: 121354
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1076A>G
  hgvsp: ENSP00000390035.1:p.Asp359Gly
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*210A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*711A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1076A>G
  hgvsp: ENSP00000249269.4:p.Asp359Gly
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.761A>G
  hgvsp: ENSP00000410393.2:p.Asp254Gly
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*711A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1102A>G
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15663
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6520
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34968
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Asp359Gly
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

7-102950855-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950855
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950855
    reference: chr 7
allele count: 2
allele frequency: 1.648016612007449e-5
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*221T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.772T>C
  hgvsp: ENSP00000410393.2:p.Trp258Arg
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1113T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1087T>C
  hgvsp: ENSP00000249269.4:p.Trp363Arg
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*722T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1087T>C
  hgvsp: ENSP00000390035.1:p.Trp363Arg
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*722T>C
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1446
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15681
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Trp363Arg
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum

7-102950869-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950869
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950869
    reference: chr 7
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1127G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1101G>A
  hgvsp: ENSP00000390035.1:p.Met367Ile
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*736G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*736G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1101G>A
  hgvsp: ENSP00000249269.4:p.Met367Ile
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*235G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.786G>A
  hgvsp: ENSP00000410393.2:p.Met262Ile
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6529
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7197
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Met367Ile
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD

7-102950878-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950878
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950878
    reference: chr 7
allele count: 3
allele frequency: 2.471984179301253e-5
allele num: 121360
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*244A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*745A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.795A>G
  hgvsp: ENST00000420236.2:c.795A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1110A>G
  hgvsp: ENST00000428154.1:c.1110A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1136A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1110A>G
  hgvsp: ENST00000249269.4:c.1110A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*745A>G
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15699
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6530
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45478
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 435
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu370Glu
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD

7-102950882-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950882
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950882
    reference: chr 7
allele count: 1
allele frequency: 8.240083060037246e-6
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*749T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1114T>C
  hgvsp: ENSP00000390035.1:p.Ser372Pro
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1140T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1114T>C
  hgvsp: ENSP00000249269.4:p.Ser372Pro
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*749T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*248T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.799T>C
  hgvsp: ENSP00000410393.2:p.Ser267Pro
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6532
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15701
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2043
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1090
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45475
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1965
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1943
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser372Pro
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: QD

7-102950888-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950888
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950888
    reference: chr 7
allele count: 3
allele frequency: 2.472065658063878e-5
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1120G>A
  hgvsp: ENSP00000249269.4:p.Val374Ile
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1120G>A
  hgvsp: ENSP00000390035.1:p.Val374Ile
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*755G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1146G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*254G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*755G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.805G>A
  hgvsp: ENSP00000410393.2:p.Val269Ile
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34927
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1447
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 375
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1091
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45463
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val374Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
reference allele: G
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-102950891-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950891
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950891
    reference: chr 7
allele count: 333
allele frequency: 2.744309472400323e-3
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1123G>A
  hgvsp: ENSP00000249269.4:p.Ala375Thr
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*257G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.808G>A
  hgvsp: ENSP00000410393.2:p.Ala270Thr
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1149G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*758G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1123G>A
  hgvsp: ENSP00000390035.1:p.Ala375Thr
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*758G>A
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 34730
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 1440
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 9.75e1
  variant carriers: 152
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 5.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6493
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 15657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 4.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 9.25e1
  variant carriers: 28
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 6.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 8.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 5.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 472
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 425
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala375Thr
num of homozygotes: 7
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum

7-102950894-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950894
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950894
    reference: chr 7
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1152G>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1126G>C
  hgvsp: ENSP00000249269.4:p.Asp376His
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*761G>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.811G>C
  hgvsp: ENSP00000410393.2:p.Asp271His
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*761G>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1126G>C
  hgvsp: ENSP00000390035.1:p.Asp376His
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*260G>C
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15786
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34747
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6600
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1082
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45460
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7230
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp376His
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-102950897-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950897
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950897
    reference: chr 7
allele count: 1
allele frequency: 8.242528148233626e-6
allele num: 121322
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1155A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.814A>G
  hgvsp: ENSP00000410393.2:p.Met272Val
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*764A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*263A>G
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1129A>G
  hgvsp: ENSP00000249269.4:p.Met377Val
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1129A>G
  hgvsp: ENSP00000390035.1:p.Met377Val
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*764A>G
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34737
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6601
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1945
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Met377Val
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

7-102950898-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950898
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950898
    reference: chr 7
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*264T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.815T>C
  hgvsp: ENSP00000410393.2:p.Met272Thr
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*765T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1130T>C
  hgvsp: ENSP00000249269.4:p.Met377Thr
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1156T>C
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1130T>C
  hgvsp: ENSP00000390035.1:p.Met377Thr
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*765T>C
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34723
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met377Thr
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP

7-102950899-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950899
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950899
    reference: chr 7
allele count: 3
allele frequency: 2.473003050037095e-5
allele num: 121310
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  hgvsc: ENST00000456433.1:c.*265G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsc: ENST00000428154.1:c.1131G>A
  hgvsp: ENSP00000390035.1:p.Met377Ile
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  hgvsc: ENST00000443722.1:c.*766G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsc: ENST00000249269.4:c.1131G>A
  hgvsp: ENSP00000249269.4:p.Met377Ile
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsc: ENST00000420236.2:c.816G>A
  hgvsp: ENSP00000410393.2:p.Met272Ile
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  hgvsc: ENST00000453466.1:c.*766G>A
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  hgvsc: ENST00000444457.1:c.*1157G>A
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34721
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15783
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2015
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Met377Ile
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-102950903-CATGTTGTTCAAAAAGA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102950903
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102950887
    reference: chr 7
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000249269
  ensembl transcript: ENST00000249269
  gene symbol: PMPCB
  hgvsp: ENSP00000249269.4:p.Val380GlyfsTer20
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000408682
  ensembl transcript: ENST00000453466
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000397884
  ensembl transcript: ENST00000456433
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000410393
  ensembl transcript: ENST00000420236
  gene symbol: PMPCB
  hgvsp: ENSP00000410393.2:p.Val275GlyfsTer20
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000390035
  ensembl transcript: ENST00000428154
  gene symbol: PMPCB
  hgvsp: ENSP00000390035.1:p.Val380GlyfsTer20
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000402859
  ensembl transcript: ENST00000443722
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000105819
  ensembl protein: ENSP00000388934
  ensembl transcript: ENST00000444457
  gene symbol: PMPCB
  variant of: http://identifiers.org/hgnc/9119
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1477
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34714
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15770
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 178
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6602
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7221
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1081
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 480
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val380GlyfsTer20
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
reference allele: CATGTTGTTCAAAAAGA
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS

GenotypeQuality
all individuals: 12
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 48646
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 166
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1069
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 470
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500690317546071e-5
allele num: 66636
num of homozygotes: 0

African
type: Population
allele count: 5
allele frequency: 4.807692307692308e-4
allele num: 10400
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.51e-1

QD
type: SiteQuality
SIO_000300: 1.358e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.74e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.692329e6

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1064
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 468
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 227
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1065
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7521
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16384
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66624
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: -1.701e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.26e-1

DP
type: SiteQuality
SIO_000300: 1.691488e6

MQRankSum
type: SiteQuality
SIO_000300: 9.88e-1

MQ
type: SiteQuality
SIO_000300: 5.884e1

FS
type: SiteQuality
SIO_000300: 1.2418e1

QD
type: SiteQuality
SIO_000300: 1.176e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.58e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.2e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 1073
bin: 9.75e1
variant carriers: 28

GenotypeQuality
all individuals: 1248
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 10
allele frequency: 6.109481915933529e-4
allele num: 16368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.702215816969915e-4
allele num: 66612
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.4e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

MQRankSum
type: SiteQuality
SIO_000300: 3.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

DP
type: SiteQuality
SIO_000300: 1.69163e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.0e-2

QD
type: SiteQuality
SIO_000300: 1.381e1

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16278
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66564
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e0

VQSLOD
type: SiteQuality
SIO_000300: -3.098e0

DP
type: SiteQuality
SIO_000300: 1.688129e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.256e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.59e-1

QD
type: SiteQuality
SIO_000300: 2.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
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variant carriers: 0

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

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.924557351809084e-4
allele num: 10392
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16066
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.859e1

DP
type: SiteQuality
SIO_000300: 1.684734e6

FS
type: SiteQuality
SIO_000300: 9.257999999999999e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.444e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.72e0

MQRankSum
type: SiteQuality
SIO_000300: 4.35e-1

QD
type: SiteQuality
SIO_000300: 1.07e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.21e-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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variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16014
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.658008658008658e-5
allele num: 11550
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66486
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10388
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.326e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.149e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.521e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.22e-1

DP
type: SiteQuality
SIO_000300: 1.683498e6

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

VQSLOD
type: SiteQuality
SIO_000300: 2.45e-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

African
type: Population
allele count: 1
allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15972
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66472
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
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VQSLOD
type: SiteQuality
SIO_000300: -1.386e0

MQRankSum
type: SiteQuality
SIO_000300: 2.31e0

FS
type: SiteQuality
SIO_000300: 1.139e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

DP
type: SiteQuality
SIO_000300: 1.682194e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e0

QD
type: SiteQuality
SIO_000300: 9.76e0

MQ
type: SiteQuality
SIO_000300: 5.589e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.371e0

GenotypeQuality
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variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8642
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.662508662508663e-5
allele num: 11544
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.926040061633282e-4
allele num: 10384
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.255335174491589e-4
allele num: 15932
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66444
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.11e-1

QD
type: SiteQuality
SIO_000300: 1.19e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.681426e6

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8640
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50793172085168e-5
allele num: 66316
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

South Asian
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allele count: 0
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MQRankSum
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
SIO_000300: 5.97e1

InbreedingCoeff
type: SiteQuality
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DP
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.206e1

GenotypeQuality
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variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11530
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15676
num of homozygotes: 0

European (Non-Finnish)
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allele count: 1
allele frequency: 1.50793172085168e-5
allele num: 66316
num of homozygotes: 0

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.675035e6

ClippingRankSum
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
all individuals: 122
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GenotypeQuality
all individuals: 1175
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variant carriers: 0

South Asian
type: Population
allele count: 14
allele frequency: 9.088548428979486e-4
allele num: 15404
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66134
num of homozygotes: 0

African
type: Population
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: 6610
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

DP
type: SiteQuality
SIO_000300: 1.667222e6

MQRankSum
type: SiteQuality
SIO_000300: -1.74e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

QD
type: SiteQuality
SIO_000300: 1.378e1

BaseQRankSum
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SIO_000300: -3.059e0

GenotypeQuality
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variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66134
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 894
num of homozygotes: 0

South Asian
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allele count: 1
allele frequency: 6.491820306413918e-5
allele num: 15404
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
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QD
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MQRankSum
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SIO_000300: -1.74e-1

VQSLOD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 3.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.667222e6

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14704
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10294
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.724480893386844e-5
allele num: 11462
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65462
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.821e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.32e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 4.63e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.641402e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.273e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8580
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65062
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.977393245883338e-5
allele num: 14332
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
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: -6.66e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

DP
type: SiteQuality
SIO_000300: 1.62476e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.003e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.27e0

MQRankSum
type: SiteQuality
SIO_000300: -1.466e0

VQSLOD
type: SiteQuality
SIO_000300: -3.849e-1

FS
type: SiteQuality
SIO_000300: 3.214e0

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: 7

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65046
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: 7
allele frequency: 4.893051866349783e-4
allele num: 14306
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: 11432
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10246
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8582
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.83e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.53e-1

QD
type: SiteQuality
SIO_000300: 1.347e1

VQSLOD
type: SiteQuality
SIO_000300: 5.0e-1

DP
type: SiteQuality
SIO_000300: 1.623665e6

FS
type: SiteQuality
SIO_000300: 6.852e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.79e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

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

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 7.857928650007858e-5
allele num: 12726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62094
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11122
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

QD
type: SiteQuality
SIO_000300: 1.132e1

FS
type: SiteQuality
SIO_000300: 5.728e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12726
num of homozygotes: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62094
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.991188635137565e-5
allele num: 11122
num of homozygotes: 0

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.728e0

DP
type: SiteQuality
SIO_000300: 1.509669e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.75e-1

InbreedingCoeff
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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MQRankSum
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QD
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 71
allele frequency: 1.205842391304348e-3
allele num: 58880
num of homozygotes: 0

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: 6
allele frequency: 9.505703422053232e-4
allele num: 6312
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.04777870913663e-4
allele num: 9544
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 802
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MQRankSum
type: SiteQuality
SIO_000300: 1.01e-1

InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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VQSLOD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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BaseQRankSum
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DP
type: SiteQuality
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QD
type: SiteQuality
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MQ
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: 1

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 57796
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11398
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6250
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East Asian
type: Population
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allele frequency: 1.286008230452675e-4
allele num: 7776
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Other
type: Population
allele count: 0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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Latino
type: Population
allele count: 0
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num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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MQRankSum
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InbreedingCoeff
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.24e1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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: 2
allele frequency: 3.55126247380944e-5
allele num: 56318
num of homozygotes: 0

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

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

QD
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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MQ
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InbreedingCoeff
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SIO_000300: -2.4e-3

VQSLOD
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MQRankSum
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FS
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.4e-1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6014
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 8946
num of homozygotes: 0

European (Non-Finnish)
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allele count: 6
allele frequency: 1.112635834291436e-4
allele num: 53926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 752
num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

South Asian
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allele 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

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
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DP
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QD
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FS
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VQSLOD
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MQ
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ReadPosRankSum
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ClippingRankSum
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SIO_000300: -3.86e-1

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5894
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 2
allele frequency: 3.822483850005734e-5
allele num: 52322
num of homozygotes: 0

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

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

African
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allele frequency: 0.0e0
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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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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ReadPosRankSum
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VQSLOD
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MQ
type: SiteQuality
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DP
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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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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num of homozygotes: 0

Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 722
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5700
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 49662
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 4.809e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.0e-3

MQRankSum
type: SiteQuality
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DP
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ClippingRankSum
type: SiteQuality
SIO_000300: 7.47e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.294e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.25e-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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 6324
num of homozygotes: 0

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

African
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allele frequency: 0.0e0
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num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 2.056597564988483e-5
allele num: 48624
num of homozygotes: 0

Other
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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DP
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ReadPosRankSum
type: SiteQuality
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BaseQRankSum
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QD
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InbreedingCoeff
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FS
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MQ
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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Other
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allele frequency: 0.0e0
allele num: 694
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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African
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South Asian
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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 num: 47128
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European (Finnish)
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MQRankSum
type: SiteQuality
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ClippingRankSum
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DP
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InbreedingCoeff
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FS
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BaseQRankSum
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VQSLOD
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MQ
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ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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African
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South Asian
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European (Finnish)
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European (Non-Finnish)
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allele frequency: 2.208773247338428e-5
allele num: 45274
num of homozygotes: 0

Other
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allele num: 672
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQ
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MQRankSum
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ReadPosRankSum
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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DP
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InbreedingCoeff
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele num: 43740
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South Asian
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European (Finnish)
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Latino
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African
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East Asian
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Other
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DP
type: SiteQuality
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BaseQRankSum
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MQRankSum
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QD
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VQSLOD
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FS
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ReadPosRankSum
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InbreedingCoeff
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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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European (Non-Finnish)
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European (Finnish)
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East Asian
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South Asian
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Other
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African
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Latino
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BaseQRankSum
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FS
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ReadPosRankSum
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VQSLOD
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InbreedingCoeff
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MQ
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QD
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MQRankSum
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ClippingRankSum
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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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Latino
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European (Non-Finnish)
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 7448
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7114
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5552
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5406
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 638
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -1.399e0

MQ
type: SiteQuality
SIO_000300: 4.196e1

QD
type: SiteQuality
SIO_000300: 7.3e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.42e0

DP
type: SiteQuality
SIO_000300: 7.89657e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.938e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.22e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.932e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.126e0

GenotypeQuality
all individuals: 244
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1929
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 280
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4660
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4765
bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29933
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 9.75e1
variant carriers: 13

GenotypeQuality
all individuals: 4566
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 9
allele frequency: 1.25979843225084e-3
allele num: 7144
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6676
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5342
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7674
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5294
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 9.668374746205163e-5
allele num: 41372
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

DP
type: SiteQuality
SIO_000300: 7.56087e5

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

QD
type: SiteQuality
SIO_000300: 1.678e1

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

GenotypeQuality
all individuals: 280
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 682
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
all individuals: 4660
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 385
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 164
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 453
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1410
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4765
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 972
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7144
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6676
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.417093686551291e-5
allele num: 41372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 616
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7674
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5342
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.22e-2

DP
type: SiteQuality
SIO_000300: 7.56087e5

QD
type: SiteQuality
SIO_000300: 1.678e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.53e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.31e0

GenotypeQuality
all individuals: 656
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7742
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4085
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 319
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 496
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variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2255
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 961
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4622
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 1.418037436188315e-4
allele num: 7052
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40646
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5228
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7584
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5258
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.039e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

FS
type: SiteQuality
SIO_000300: 1.861e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

DP
type: SiteQuality
SIO_000300: 7.43706e5

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

GenotypeQuality
all individuals: 7742
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 29161
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 116
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variant carriers: 0

GenotypeQuality
all individuals: 4939
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4085
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2255
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 241
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 8.25e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 606
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 4.920533385819023e-5
allele num: 40646
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7052
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6496
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5228
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

QD
type: SiteQuality
SIO_000300: 1.039e1

MQRankSum
type: SiteQuality
SIO_000300: 2.48e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.861e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.85e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.24e-1

DP
type: SiteQuality
SIO_000300: 7.43706e5

GenotypeQuality
all individuals: 663
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4319
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13820
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6079
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2928
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10792
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variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 590
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GenotypeQuality
all individuals: 141
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GenotypeQuality
all individuals: 956
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variant carriers: 0

GenotypeQuality
all individuals: 344
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1174
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 28654
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5262
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3392
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4404
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 450
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4278
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5046
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.438e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 6.53324e5

MQ
type: SiteQuality
SIO_000300: 5.79e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.24e-2

MQRankSum
type: SiteQuality
SIO_000300: -1.221e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.92e0

VQSLOD
type: SiteQuality
SIO_000300: -1.6e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

GenotypeQuality
all individuals: 6060
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9506
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variant carriers: 0

GenotypeQuality
all individuals: 1892
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GenotypeQuality
all individuals: 5218
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GenotypeQuality
all individuals: 1174
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 141
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GenotypeQuality
all individuals: 159
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variant carriers: 0

GenotypeQuality
all individuals: 161
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 211
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 3.487966515521451e-5
allele num: 28670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3390
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5042
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5272
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4262
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.172e1

DP
type: SiteQuality
SIO_000300: 6.53327e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.36e-1

FS
type: SiteQuality
SIO_000300: 3.188e0

VQSLOD
type: SiteQuality
SIO_000300: 7.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.29e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.094e0

GenotypeQuality
all individuals: 757
bin: 7.25e1
variant carriers: 20

GenotypeQuality
all individuals: 242
bin: 5.75e1
variant carriers: 20

GenotypeQuality
all individuals: 8163
bin: 6.25e1
variant carriers: 41

GenotypeQuality
all individuals: 852
bin: 7.75e1
variant carriers: 27

GenotypeQuality
all individuals: 2234
bin: 6.75e1
variant carriers: 20

GenotypeQuality
all individuals: 4729
bin: 2.75e1
variant carriers: 14

GenotypeQuality
all individuals: 710
bin: 2.5e0
variant carriers: 5

GenotypeQuality
all individuals: 1298
bin: 5.25e1
variant carriers: 19

GenotypeQuality
all individuals: 2217
bin: 1.75e1
variant carriers: 14

GenotypeQuality
all individuals: 407
bin: 9.25e1
variant carriers: 55

GenotypeQuality
all individuals: 3644
bin: 9.75e1
variant carriers: 1573

European (Non-Finnish)
type: Population
allele count: 1068
allele frequency: 2.467196451672519e-2
allele num: 43288
num of homozygotes: 16

African
type: Population
allele count: 21
allele frequency: 2.794783071599681e-3
allele num: 7514
num of homozygotes: 1

South Asian
type: Population
allele count: 92
allele frequency: 6.694804249745306e-3
allele num: 13742
num of homozygotes: 1

Other
type: Population
allele count: 17
allele frequency: 2.380952380952381e-2
allele num: 714
num of homozygotes: 0

Latino
type: Population
allele count: 52
allele frequency: 6.709677419354839e-3
allele num: 7750
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.651254953764861e-4
allele num: 6056
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 376
allele frequency: 6.66194188518781e-2
allele num: 5644
num of homozygotes: 19

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.398e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

DP
type: SiteQuality
SIO_000300: 9.71937e5

QD
type: SiteQuality
SIO_000300: 1.417e1

VQSLOD
type: SiteQuality
SIO_000300: 6.25e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 1851
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13061
bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9359
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variant carriers: 0

GenotypeQuality
all individuals: 7767
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
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GenotypeQuality
all individuals: 3028
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1342
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 550
bin: 8.25e1
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GenotypeQuality
all individuals: 2151
bin: 9.75e1
variant carriers: 7

African
type: Population
allele count: 7
allele frequency: 9.25925925925926e-4
allele num: 7560
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5710
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13788
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.286445948417779e-5
allele num: 43736
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6120
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

QD
type: SiteQuality
SIO_000300: 1.556e1

MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.17e-1

DP
type: SiteQuality
SIO_000300: 9.80223e5

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 350
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1743
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13061
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1851
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 278
bin: 8.75e1
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GenotypeQuality
all individuals: 1060
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7767
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4899
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 893
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variant carriers: 0

GenotypeQuality
all individuals: 2474
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 43736
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7830
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6120
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 716
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 7.25268349289237e-5
allele num: 13788
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5710
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.556e1

DP
type: SiteQuality
SIO_000300: 9.80223e5

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.1e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 2.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

MQRankSum
type: SiteQuality
SIO_000300: 6.23e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.72e-1

GenotypeQuality
all individuals: 950
bin: 1.25e1
variant carriers: 1

GenotypeQuality
all individuals: 703
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 225
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2294
bin: 9.75e1
variant carriers: 163

GenotypeQuality
all individuals: 7605
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11553
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2463
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5678
bin: 3.75e1
variant carriers: 2

GenotypeQuality
all individuals: 287
bin: 8.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2304
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 570
bin: 8.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44254
num of homozygotes: 0

African
type: Population
allele count: 154
allele frequency: 2.011494252873563e-2
allele num: 7656
num of homozygotes: 1

Latino
type: Population
allele count: 8
allele frequency: 1.003512293025589e-3
allele num: 7972
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5730
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6192
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 724
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.09e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

DP
type: SiteQuality
SIO_000300: 1.001476e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.63e1

GenotypeQuality
all individuals: 355
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1102
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 140
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 13570
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variant carriers: 0

GenotypeQuality
all individuals: 476
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variant carriers: 0

GenotypeQuality
all individuals: 398
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variant carriers: 0

GenotypeQuality
all individuals: 1005
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 308
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3068
bin: 2.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6864
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8228
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9050
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.049516314149861e-5
allele num: 48792
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5952
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14426
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 766
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.59e0

QD
type: SiteQuality
SIO_000300: 1.766e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

DP
type: SiteQuality
SIO_000300: 1.192383e6

GenotypeQuality
all individuals: 1215
bin: 1.75e1
variant carriers: 16

GenotypeQuality
all individuals: 22939
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2870
bin: 2.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1823
bin: 9.75e1
variant carriers: 8

GenotypeQuality
all individuals: 335
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2112
bin: 3.75e1
variant carriers: 4

GenotypeQuality
all individuals: 9886
bin: 2.25e1
variant carriers: 10

GenotypeQuality
all individuals: 276
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 5.25e1
variant carriers: 3

GenotypeQuality
all individuals: 1010
bin: 5.75e1
variant carriers: 2

GenotypeQuality
all individuals: 984
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 32
allele frequency: 6.803588893141132e-4
allele num: 47034
num of homozygotes: 0

African
type: Population
allele count: 3
allele frequency: 3.803245436105477e-4
allele num: 7888
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.519046506193036e-3
allele num: 8558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5806
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 3.036744609778318e-4
allele num: 6586
num of homozygotes: 0

South Asian
type: Population
allele count: 8
allele frequency: 5.78368999421631e-4
allele num: 13832
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.312e0

QD
type: SiteQuality
SIO_000300: 5.2e-1

DP
type: SiteQuality
SIO_000300: 1.353117e6

BaseQRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

FS
type: SiteQuality
SIO_000300: 6.605e0

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 335
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2112
bin: 3.75e1
variant carriers: 18

GenotypeQuality
all individuals: 924
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1225
bin: 7.5e0
variant carriers: 9

GenotypeQuality
all individuals: 1175
bin: 1.25e1
variant carriers: 18

GenotypeQuality
all individuals: 1823
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 2870
bin: 2.75e1
variant carriers: 22

GenotypeQuality
all individuals: 3155
bin: 6.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 276
bin: 8.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1349
bin: 4.75e1
variant carriers: 13

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.444712366517396e-4
allele num: 5806
num of homozygotes: 0

Latino
type: Population
allele count: 8
allele frequency: 9.347978499649451e-4
allele num: 8558
num of homozygotes: 0

South Asian
type: Population
allele count: 14
allele frequency: 1.012145748987854e-3
allele num: 13832
num of homozygotes: 0

African
type: Population
allele count: 7
allele frequency: 8.874239350912779e-4
allele num: 7888
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.319261213720317e-3
allele num: 758
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 66
allele frequency: 1.403240209210358e-3
allele num: 47034
num of homozygotes: 0

East Asian
type: Population
allele count: 10
allele frequency: 1.518372304889159e-3
allele num: 6586
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.929999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.9e-2

FS
type: SiteQuality
SIO_000300: 6.605e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e-1

DP
type: SiteQuality
SIO_000300: 1.353117e6

MQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.312e0

QD
type: SiteQuality
SIO_000300: 5.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

GenotypeQuality
all individuals: 12
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1934
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
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variant carriers: 0

GenotypeQuality
all individuals: 43
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variant carriers: 0

GenotypeQuality
all individuals: 6967
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variant carriers: 0

GenotypeQuality
all individuals: 103
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variant carriers: 0

GenotypeQuality
all individuals: 123
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variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1950
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10276
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515243348081702e-5
allele num: 65996
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

MQRankSum
type: SiteQuality
SIO_000300: 3.02e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.540907e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.8697e1

VQSLOD
type: SiteQuality
SIO_000300: -2.322e0

QD
type: SiteQuality
SIO_000300: 1.714e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.9e-1

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 82
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variant carriers: 0

GenotypeQuality
all individuals: 1942
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variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1926
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variant carriers: 0

GenotypeQuality
all individuals: 431
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variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44595
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.028284174186906e-5
allele num: 66044
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8608
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16408
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.9e-1

FS
type: SiteQuality
SIO_000300: 1.3099e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.8e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.104e0

VQSLOD
type: SiteQuality
SIO_000300: -1.728e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e-1

DP
type: SiteQuality
SIO_000300: 1.542603e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 8.08e0

MQ
type: SiteQuality
SIO_000300: 5.468e1

GenotypeQuality
all individuals: 75
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 510
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2050
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 52
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 1100
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 433
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variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.361655773420479e-4
allele num: 66096
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16424
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.38e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.039e0

MQRankSum
type: SiteQuality
SIO_000300: 3.31e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.05e0

QD
type: SiteQuality
SIO_000300: 1.252e1

FS
type: SiteQuality
SIO_000300: 1.459e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

DP
type: SiteQuality
SIO_000300: 1.543994e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1955
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
all individuals: 42
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variant carriers: 0

GenotypeQuality
all individuals: 8
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GenotypeQuality
all individuals: 491
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variant carriers: 0

GenotypeQuality
all individuals: 1106
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7088
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45031
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.667440061871617e-5
allele num: 10344
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66386
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.214919207872676e-4
allele num: 16462
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.2106e1

DP
type: SiteQuality
SIO_000300: 1.550453e6

QD
type: SiteQuality
SIO_000300: 8.16e0

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

MQ
type: SiteQuality
SIO_000300: 5.962e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.37e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 38
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variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45031
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
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variant carriers: 0

GenotypeQuality
all individuals: 7088
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 301
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1965
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1955
bin: 7.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.012683397101799e-5
allele num: 66386
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.8e-1

FS
type: SiteQuality
SIO_000300: 1.2106e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.98e-1

QD
type: SiteQuality
SIO_000300: 8.16e0

DP
type: SiteQuality
SIO_000300: 1.550453e6

MQ
type: SiteQuality
SIO_000300: 5.962e1

GenotypeQuality
all individuals: 280
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2043
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45000
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1104
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1956
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.700191404210893e-5
allele num: 11494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10352
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6594
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66404
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16462
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -4.884e0

MQRankSum
type: SiteQuality
SIO_000300: 2.43e-1

DP
type: SiteQuality
SIO_000300: 1.551233e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.03e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.532e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

QD
type: SiteQuality
SIO_000300: 1.821e1

FS
type: SiteQuality
SIO_000300: 5.74e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 199
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2045
bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 490
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16474
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.646922631680494e-5
allele num: 10366
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66506
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.879e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.900000000000001e-2

VQSLOD
type: SiteQuality
SIO_000300: -7.65e-1

FS
type: SiteQuality
SIO_000300: 9.932e0

QD
type: SiteQuality
SIO_000300: 9.779999999999999e0

DP
type: SiteQuality
SIO_000300: 1.553533e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.63e-1

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7134
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1964
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 431
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 187
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2045
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1957
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.676036786395974e-5
allele num: 11526
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66518
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 3.598e0

MQRankSum
type: SiteQuality
SIO_000300: 8.120000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.53e-1

QD
type: SiteQuality
SIO_000300: 1.12e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.9e-1

DP
type: SiteQuality
SIO_000300: 1.55399e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.423e0

GenotypeQuality
all individuals: 45218
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2045
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 7150
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1098
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variant carriers: 0

GenotypeQuality
all individuals: 23
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variant carriers: 0

GenotypeQuality
all individuals: 1949
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 163
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10374
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.00507858280494e-5
allele num: 66554
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16486
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.169e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.61e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.29e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.945e0

FS
type: SiteQuality
SIO_000300: 3.159e0

DP
type: SiteQuality
SIO_000300: 1.555156e6

GenotypeQuality
all individuals: 54
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1967
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7167
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 8.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50177209106746e-5
allele num: 66588
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.556607e6

FS
type: SiteQuality
SIO_000300: 8.356999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.915e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.71e0

MQRankSum
type: SiteQuality
SIO_000300: 1.67e0

VQSLOD
type: SiteQuality
SIO_000300: -1.972e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 5.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.15e-1

QD
type: SiteQuality
SIO_000300: 1.752e1

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

GenotypeQuality
all individuals: 27
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1950
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45199
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1098
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 487
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 432
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1969
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 28
allele frequency: 4.204961854988887e-4
allele num: 66588
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.79e-1

FS
type: SiteQuality
SIO_000300: 1.386e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.62e0

DP
type: SiteQuality
SIO_000300: 1.557457e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.01e0

QD
type: SiteQuality
SIO_000300: 1.413e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 45301
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1950
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
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variant carriers: 0

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

GenotypeQuality
all individuals: 1968
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2044
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5004651441947e-5
allele num: 66646
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.388e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -6.820000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.588e0

QD
type: SiteQuality
SIO_000300: 1.259e1

MQ
type: SiteQuality
SIO_000300: 5.876e1

DP
type: SiteQuality
SIO_000300: 1.55847e6

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 13
bin: 4.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 2
allele frequency: 2.311604253351826e-4
allele num: 8652
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-3

FS
type: SiteQuality
SIO_000300: 6.956e0

QD
type: SiteQuality
SIO_000300: 1.32e1

VQSLOD
type: SiteQuality
SIO_000300: -9.82e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.98e-2

DP
type: SiteQuality
SIO_000300: 1.559734e6

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 5.979e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-2

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 7174
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 2.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66676
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.979e1

VQSLOD
type: SiteQuality
SIO_000300: -9.82e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.2e-2

FS
type: SiteQuality
SIO_000300: 6.956e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.07e0

MQRankSum
type: SiteQuality
SIO_000300: 1.46e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.98e-2

QD
type: SiteQuality
SIO_000300: 1.32e1

DP
type: SiteQuality
SIO_000300: 1.559734e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-3

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 45336
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
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variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1968
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 486
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variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1091
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2045
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.604e0

QD
type: SiteQuality
SIO_000300: 1.382e1

VQSLOD
type: SiteQuality
SIO_000300: 8.599999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.87e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.229e0

DP
type: SiteQuality
SIO_000300: 1.560219e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.889e1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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bin: 5.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998500749625187e-5
allele num: 66700
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.942e1

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-1

QD
type: SiteQuality
SIO_000300: 1.481e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.66e-1

DP
type: SiteQuality
SIO_000300: 1.560505e6

FS
type: SiteQuality
SIO_000300: 4.434e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-2

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1089
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499250374812594e-5
allele num: 66700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6606
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-2

QD
type: SiteQuality
SIO_000300: 1.481e1

FS
type: SiteQuality
SIO_000300: 4.434e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.66e-1

MQ
type: SiteQuality
SIO_000300: 5.942e1

MQRankSum
type: SiteQuality
SIO_000300: 5.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.3e-1

DP
type: SiteQuality
SIO_000300: 1.560505e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e-1

GenotypeQuality
all individuals: 437
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45415
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 4.25e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66708
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.3e-2

DP
type: SiteQuality
SIO_000300: 1.560772e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.669999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.27e0

MQRankSum
type: SiteQuality
SIO_000300: -2.27e-1

QD
type: SiteQuality
SIO_000300: 9.91e0

GenotypeQuality
all individuals: 7190
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1965
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.613535858488752e-5
allele num: 10402
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.27e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.22e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-1

DP
type: SiteQuality
SIO_000300: 1.56124e6

QD
type: SiteQuality
SIO_000300: 1.324e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.694e0

MQRankSum
type: SiteQuality
SIO_000300: -8.999999999999999e-3

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

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

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
all individuals: 1090
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1966
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45485
bin: 6.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11566
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49907057624273e-5
allele num: 66708
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.601000000000001e0

DP
type: SiteQuality
SIO_000300: 1.561304e6

VQSLOD
type: SiteQuality
SIO_000300: -1.664e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.583e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.802e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: -1.212e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 9.91e0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 3

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
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allele count: 3
allele frequency: 4.49734656552634e-5
allele num: 66706
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e0

VQSLOD
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InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.561486e6

MQRankSum
type: SiteQuality
SIO_000300: 4.99e-1

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-3

QD
type: SiteQuality
SIO_000300: 1.291e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 2
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variant carriers: 0

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

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

African
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allele count: 0
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allele num: 10402
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.1e-2

ClippingRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -2.92e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.962e1

FS
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.252e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1965
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 435
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.497751124437781e-5
allele num: 66700
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10402
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

Latino
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allele count: 0
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allele num: 11568
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.304e1

MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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FS
type: SiteQuality
SIO_000300: 1.0423e1

VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.561307e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ReadPosRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 326

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1922
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variant carriers: 0

South Asian
type: Population
allele count: 54
allele frequency: 3.270745003028467e-3
allele num: 16510
num of homozygotes: 1

East Asian
type: Population
allele count: 271
allele frequency: 3.131499884446499e-2
allele num: 8654
num of homozygotes: 6

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

Latino
type: Population
allele count: 1
allele frequency: 8.644536652835408e-5
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.497825630567136e-5
allele num: 66686
num of homozygotes: 0

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

Other
type: Population
allele count: 2
allele frequency: 2.202643171806168e-3
allele num: 908
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.41e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.95e-2

QD
type: SiteQuality
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MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.582943e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.04e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.663e0

GenotypeQuality
all individuals: 5
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 428
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1962
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2013
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1944
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.615384615384615e-5
allele num: 10400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66678
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.23e-1

DP
type: SiteQuality
SIO_000300: 1.561767e6

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: -8.67e-1

QD
type: SiteQuality
SIO_000300: 9.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.78e-1

GenotypeQuality
all individuals: 1963
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45450
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2013
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7227
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499880009599232e-5
allele num: 66672
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8654
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.18e-2

DP
type: SiteQuality
SIO_000300: 1.561627e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.629e0

MQ
type: SiteQuality
SIO_000300: 5.845e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.07e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.18e-1

QD
type: SiteQuality
SIO_000300: 1.171e1

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

GenotypeQuality
all individuals: 428
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45423
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1946
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7226
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2013
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.22e-2

MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 1.459e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.988e0

MQRankSum
type: SiteQuality
SIO_000300: 7.57e-1

QD
type: SiteQuality
SIO_000300: 1.045e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.55e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

DP
type: SiteQuality
SIO_000300: 1.561402e6

GenotypeQuality
all individuals: 428
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45424
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 480
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1081
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7225
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1946
bin: 7.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.499775011249437e-5
allele num: 66670
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.561562e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.637e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.04e-2

FS
type: SiteQuality
SIO_000300: 6.176e0

MQRankSum
type: SiteQuality
SIO_000300: -3.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.73e-1

QD
type: SiteQuality
SIO_000300: 1.329e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.133e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
all individuals: 45412
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1946
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2013
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10396
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -4.144e-1

DP
type: SiteQuality
SIO_000300: 1.561068e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.95e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.169e0

FS
type: SiteQuality
SIO_000300: 7.778e0