http://identifiers.org/exac.variant/7-102988208-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102988208
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102988208
    reference: chr 7
allele count: 1
allele frequency: 8.240218860212928e-6
allele num: 121356
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.50A>C
  hgvsp: ENSP00000292644.3:p.Lys17Thr
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.50A>C
  hgvsp: ENSP00000401724.1:p.Lys17Thr
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-262A>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.50A>C
  hgvsp: ENSP00000391211.1:p.Lys17Thr
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.50A>C
  hgvsp: ENSP00000393027.1:p.Lys17Thr
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4003
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2930
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 648
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7056
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9116
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1430
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10932
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12535
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24307
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11463
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6563
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys17Thr
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-102988209-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102988209
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102988209
    reference: chr 7
allele count: 171
allele frequency: 1.409077425096411e-3
allele num: 121356
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-261G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.51G>A
  hgvsp: ENST00000425206.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.51G>A
  hgvsp: ENST00000457587.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.51G>A
  hgvsp: ENST00000292644.3:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.51G>A
  hgvsp: ENST00000435765.1:c.51G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 7.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 12530
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10934
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9117
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 8.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2916
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 8.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 7060
  bin: 4.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 9.75e1
  variant carriers: 71
genotype depth: GenotypeDepth
  all individuals: 3995
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 6.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24324
  bin: 9.75e1
  variant carriers: 171
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4784
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4260
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6560
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Lys17Lys
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

7-102988210-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102988210
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102988210
    reference: chr 7
allele count: 1
allele frequency: 8.240490473993011e-6
allele num: 121352
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.52G>A
  hgvsp: ENSP00000393027.1:p.Asp18Asn
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.52G>A
  hgvsp: ENSP00000391211.1:p.Asp18Asn
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.52G>A
  hgvsp: ENSP00000401724.1:p.Asp18Asn
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.52G>A
  hgvsp: ENSP00000292644.3:p.Asp18Asn
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-260G>A
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7065
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9127
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  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: 55
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3150
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11508
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4796
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24200
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asp18Asn
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum

7-102988212-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102988212
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102988212
    reference: chr 7
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.54C>G
  hgvsp: ENSP00000391211.1:p.Asp18Glu
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-258C>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.54C>G
  hgvsp: ENSP00000393027.1:p.Asp18Glu
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.54C>G
  hgvsp: ENSP00000292644.3:p.Asp18Glu
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.54C>G
  hgvsp: ENSP00000401724.1:p.Asp18Glu
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10975
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9127
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5488
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7064
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2036
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24201
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6586
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4796
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3149
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Asp18Glu
num of homozygotes: 0
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP

7-102988213-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102988213
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102988213
    reference: chr 7
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.55G>T
  hgvsp: ENSP00000292644.3:p.Asp19Tyr
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-257G>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.55G>T
  hgvsp: ENSP00000401724.1:p.Asp19Tyr
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.55G>T
  hgvsp: ENSP00000391211.1:p.Asp19Tyr
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.55G>T
  hgvsp: ENSP00000393027.1:p.Asp19Tyr
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9128
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2037
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10972
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2913
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6586
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3151
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4795
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24199
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11492
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Asp19Tyr
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD

http://identifiers.org/exac.variant/7-102988214-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102988214
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102988214
    reference: chr 7
allele count: 1
allele frequency: 8.241848811525402e-6
allele num: 121332
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.56A>C
  hgvsp: ENSP00000292644.3:p.Asp19Ala
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.56A>C
  hgvsp: ENSP00000391211.1:p.Asp19Ala
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.56A>C
  hgvsp: ENSP00000393027.1:p.Asp19Ala
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-256A>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.56A>C
  hgvsp: ENSP00000401724.1:p.Asp19Ala
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12569
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2038
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2020
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9126
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4000
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2368
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24197
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3692
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11490
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp19Ala
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

7-102988218-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102988218
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102988218
    reference: chr 7
allele count: 1
allele frequency: 8.242664029014178e-6
allele num: 121320
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-252G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.60G>A
  hgvsp: ENST00000457587.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.60G>A
  hgvsp: ENST00000425206.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.60G>A
  hgvsp: ENST00000435765.1:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.60G>A
  hgvsp: ENST00000292644.3:c.60G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5487
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12568
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2030
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9124
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2912
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  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: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6580
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3692
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4272
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11483
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24196
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys20Lys
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff

7-102988224-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102988224
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102988224
    reference: chr 7
allele count: 1
allele frequency: 8.24347940778844e-6
allele num: 121308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.66C>T
  hgvsp: ENST00000425206.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.66C>T
  hgvsp: ENST00000292644.3:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.66C>T
  hgvsp: ENST00000435765.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.66C>T
  hgvsp: ENST00000457587.1:c.66C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-246C>T
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5486
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10976
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1417
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12559
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7063
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3999
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9120
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4789
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4269
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile22Ile
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum

7-102988239-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102988239
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102988239
    reference: chr 7
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.70+11A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.70+11A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.70+11A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-242+11A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.70+11A>G
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12507
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5482
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1965
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7060
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10929
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 584
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6560
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2366
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: Latino
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

7-102988240-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102988240
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102988240
    reference: chr 7
allele count: 2
allele frequency: 1.64923970049807e-5
allele num: 121268
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.70+12T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-242+12T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.70+12T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.70+12T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.70+12T>G
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10918
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3996
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9114
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12508
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5481
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2911
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 916
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7060
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6565
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4262
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2367
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11333
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-102988249-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102988249
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102988249
    reference: chr 7
allele count: 19
allele frequency: 1.567630897179914e-4
allele num: 121202
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.70+21G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.70+21G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.70+21G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.70+21G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-242+21G>A
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1416
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2012
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7027
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9028
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5473
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2021
  bin: 6.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3993
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12283
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2910
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4720
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6402
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

7-102988253-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102988253
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102988253
    reference: chr 7
allele count: 1
allele frequency: 8.251778258214646e-6
allele num: 121186
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.70+25G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-242+25G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.70+25G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.70+25G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.70+25G>A
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10781
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8993
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3989
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1413
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5468
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7022
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10989
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4237
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6366
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4703
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 185
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24141
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3676
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

7-102988263-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102988263
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102988263
    reference: chr 7
allele count: 16
allele frequency: 1.320982150228695e-4
allele num: 121122
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.70+35C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.70+35C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-242+35C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.70+35C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.70+35C>T
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8880
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 582
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3987
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5453
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2168
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1169
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11661
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2018
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6983
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10332
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 291
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2972
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24106
  bin: 9.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6068
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 474
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum

7-102988265-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102988265
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102988265
    reference: chr 7
allele count: 1
allele frequency: 8.258456659619451e-6
allele num: 121088
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.70+37G>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-242+37G>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.70+37G>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.70+37G>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.70+37G>T
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3981
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5440
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2909
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9735
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11170
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6959
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8781
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2401
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3658
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4515
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 625
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9284
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2872
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4141
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD

7-102988272-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102988272
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102988272
    reference: chr 7
allele count: 10
allele frequency: 8.260093834665961e-5
allele num: 121064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-242+44A>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.70+44A>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.70+44A>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.70+44A>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.70+44A>T
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3980
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6940
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10393
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3784
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8962
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 8683
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2388
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2907
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 743
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2780
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4123
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2315
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8372
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3653
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24081
  bin: 9.75e1
  variant carriers: 10
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: MQ

7-102988277-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102988277
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102988277
    reference: chr 7
allele count: 1
allele frequency: 8.266375690242371e-6
allele num: 120972
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-242+49A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.70+49A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.70+49A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.70+49A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.70+49A>G
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3971
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 158
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1414
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8482
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2016
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8593
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5121
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4374
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1863
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4938
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2301
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 410
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2708
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6553
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4097
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3641
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1187
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24064
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

7-102993287-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102993287
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102993287
    reference: chr 7
allele count: 1
allele frequency: 8.28363154406892e-6
allele num: 120720
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.*70A>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-1081T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-1081T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.*50A>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.*50A>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-1081T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-1081T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-1081T>C
  variant of: http://identifiers.org/hgnc/9548
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40391
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1991
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum

7-102993300-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102993300
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102993300
    reference: chr 7
allele count: 2
allele frequency: 1.656643970644269e-5
allele num: 120726
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-1068C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.*37G>A
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-1068C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-1068C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-1068C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-1068C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.*57G>A
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.*37G>A
  variant of: http://identifiers.org/hgnc/9359
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3295
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1560
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40391
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

7-102993303-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102993303
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102993303
    reference: chr 7
allele count: 1
allele frequency: 8.283219853221344e-6
allele num: 120726
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.*34T>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-1065A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-1065A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.*54T>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.*34T>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-1065A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-1065A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-1065A>G
  variant of: http://identifiers.org/hgnc/9548
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40392
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2467
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS

7-102993314-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102993314
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102993314
    reference: chr 7
allele count: 2
allele frequency: 1.656808655168415e-5
allele num: 120714
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-1054G>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-1054G>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.*23C>A
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-1054G>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.*43C>A
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.*23C>A
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-1054G>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-1054G>T
  variant of: http://identifiers.org/hgnc/9548
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40391
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 404
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59252
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

7-102993320-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102993320
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102993320
    reference: chr 7
allele count: 1
allele frequency: 8.284180528862085e-6
allele num: 120712
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.*37T>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-1048A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.*17T>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-1048A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-1048A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-1048A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-1048A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.*17T>C
  variant of: http://identifiers.org/hgnc/9359
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40391
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/7-102993325-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102993325
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102993325
    reference: chr 7
allele count: 1
allele frequency: 8.284455048546906e-6
allele num: 120708
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-1043A>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.*12T>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.*12T>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-1043A>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-1043A>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.*32T>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-1043A>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-1043A>C
  variant of: http://identifiers.org/hgnc/9548
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40391
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59252
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

7-102993327-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102993327
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102993327
    reference: chr 7
allele count: 3
allele frequency: 2.485377694563651e-5
allele num: 120706
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.*10C>T
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-1041G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.*10C>T
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-1041G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-1041G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.*30C>T
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-1041G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-1041G>A
  variant of: http://identifiers.org/hgnc/9548
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40391
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum

7-102993333-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102993333
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102993333
    reference: chr 7
allele count: 1
allele frequency: 8.285690612312537e-6
allele num: 120690
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.*4A>T
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-1035T>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.*24A>T
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-1035T>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-1035T>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-1035T>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.*4A>T
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-1035T>A
  variant of: http://identifiers.org/hgnc/9548
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40391
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP

7-102993339-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102993339
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102993339
    reference: chr 7
allele count: 1
allele frequency: 8.285553309249991e-6
allele num: 120692
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-1029A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.1006T>C
  hgvsp: ENSP00000349210.4:p.Ter336GlnextTer27
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1549T>C
  hgvsp: ENSP00000377336.2:p.Ter517GlnextTer27
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-1029A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.*18T>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-1029A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-1029A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-1029A>G
  variant of: http://identifiers.org/hgnc/9548
canonical: false
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40391
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3294
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ter336GlnextTer27
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

http://identifiers.org/exac.variant/7-102993340-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102993340
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102993340
    reference: chr 7
allele count: 1
allele frequency: 8.285553309249991e-6
allele num: 120692
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.1005G>T
  hgvsp: ENST00000356767.4:c.1005G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.*17G>T
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-1028C>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-1028C>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1548G>T
  hgvsp: ENST00000393735.2:c.1548G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-1028C>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-1028C>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-1028C>A
  variant of: http://identifiers.org/hgnc/9548
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40393
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Pro335Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
reference allele: C
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

7-102993340-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102993340
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102993340
    reference: chr 7
allele count: 9
allele frequency: 7.456997978324993e-5
allele num: 120692
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-1028C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-1028C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-1028C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.*17G>A
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.1005G>A
  hgvsp: ENST00000356767.4:c.1005G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-1028C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-1028C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1548G>A
  hgvsp: ENST00000393735.2:c.1548G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9359
canonical: false
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3292
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40393
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 2468
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2818
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59252
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Pro335Pro
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

7-102993341-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102993341
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102993341
    reference: chr 7
allele count: 1
allele frequency: 8.285827919925758e-6
allele num: 120688
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1547C>T
  hgvsp: ENSP00000377336.2:p.Pro516Leu
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-1027G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.1004C>T
  hgvsp: ENSP00000349210.4:p.Pro335Leu
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-1027G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.*16C>T
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-1027G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-1027G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-1027G>A
  variant of: http://identifiers.org/hgnc/9548
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1561
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40390
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 393
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59252
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro335Leu
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff

7-102993343-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102993343
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102993343
    reference: chr 7
allele count: 1
allele frequency: 8.285690612312537e-6
allele num: 120690
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-1025T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-1025T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-1025T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.1002A>C
  hgvsp: ENSP00000349210.4:p.Arg334Ser
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-1025T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-1025T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.*14A>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1545A>C
  hgvsp: ENSP00000377336.2:p.Arg515Ser
  variant of: http://identifiers.org/hgnc/9359
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 392
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 838
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40389
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2817
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg334Ser
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

7-102993362-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102993362
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102993362
    reference: chr 7
allele count: 4
allele frequency: 3.314935441632274e-5
allele num: 120666
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-1006T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1526A>C
  hgvsp: ENSP00000377336.2:p.Glu509Ala
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-1006T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-1006T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2053A>C
  hgvsp: ENST00000339444.6:c.2053A>C(p.%3D)
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-1006T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.983A>C
  hgvsp: ENSP00000349210.4:p.Glu328Ala
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-1006T>G
  variant of: http://identifiers.org/hgnc/9548
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40393
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2470
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu328Ala
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum

7-102993363-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102993363
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102993363
    reference: chr 7
allele count: 2
allele frequency: 1.657495193263939e-5
allele num: 120664
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-1005C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-1005C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-1005C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-1005C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1525G>A
  hgvsp: ENSP00000377336.2:p.Glu509Lys
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.982G>A
  hgvsp: ENSP00000349210.4:p.Glu328Lys
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2052G>A
  hgvsp: ENST00000339444.6:c.2052G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-1005C>T
  variant of: http://identifiers.org/hgnc/9548
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1562
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40390
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu328Lys
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: FS

7-102993365-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102993365
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102993365
    reference: chr 7
allele count: 2
allele frequency: 1.657605092162843e-5
allele num: 120656
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2050C>T
  hgvsp: ENSP00000342396.6:p.Gln684Ter
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1523C>T
  hgvsp: ENSP00000377336.2:p.Thr508Ile
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.980C>T
  hgvsp: ENSP00000349210.4:p.Thr327Ile
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-1003G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-1003G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-1003G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-1003G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-1003G>A
  variant of: http://identifiers.org/hgnc/9548
canonical: false
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40389
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2471
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59252
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gln684Ter
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff

7-102993369-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102993369
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102993369
    reference: chr 7
allele count: 2
allele frequency: 1.657660047077545e-5
allele num: 120652
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-999G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-999G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-999G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.976C>T
  hgvsp: ENSP00000349210.4:p.His326Tyr
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-999G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1519C>T
  hgvsp: ENSP00000377336.2:p.His507Tyr
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2046C>T
  hgvsp: ENST00000339444.6:c.2046C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-999G>A
  variant of: http://identifiers.org/hgnc/9548
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40388
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59252
  bin: 9.75e1
  variant carriers: 2
hgvs: p.His326Tyr
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/7-102993372-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102993372
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102993372
    reference: chr 7
allele count: 1
allele frequency: 8.288575028181154e-6
allele num: 120648
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-996A>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-996A>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1516T>G
  hgvsp: ENSP00000377336.2:p.Phe506Val
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-996A>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-996A>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2043T>G
  hgvsp: ENST00000339444.6:c.2043T>G(p.%3D)
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.973T>G
  hgvsp: ENSP00000349210.4:p.Phe325Val
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-996A>C
  variant of: http://identifiers.org/hgnc/9548
canonical: false
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40388
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 337
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2816
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59252
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe325Val
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

7-102993374-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102993374
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102993374
    reference: chr 7
allele count: 2
allele frequency: 1.657715005636231e-5
allele num: 120648
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-994C>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-994C>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1G>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1G>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-994C>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1G>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-994C>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-994C>G
  variant of: http://identifiers.org/hgnc/9548
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 645
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40389
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
hgvs: c.2042-1G>C
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ

7-102993404-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102993404
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102993404
    reference: chr 7
allele count: 7
allele frequency: 5.803926771026797e-5
allele num: 120608
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-964T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-964T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-964T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-31A>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-964T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-31A>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-31A>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-964T>G
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 837
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2472
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3293
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 644
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40389
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 1187
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2815
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1990
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

7-102994317-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102994317
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102994317
    reference: chr 7
allele count: 344
allele frequency: 3.066883012677638e-3
allele num: 112166
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-51T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-51T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-51T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-51T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-51T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-944A>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-944A>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-944A>G
  variant of: http://identifiers.org/hgnc/9359
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 12452
  bin: 1.75e1
  variant carriers: 51
genotype depth: GenotypeDepth
  all individuals: 10298
  bin: 2.25e1
  variant carriers: 63
genotype depth: GenotypeDepth
  all individuals: 5329
  bin: 3.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 4.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10059
  bin: 1.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3246
  bin: 3.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 3765
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8192
  bin: 2.75e1
  variant carriers: 46
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 7.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1986
  bin: 4.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 8264
  bin: 9.75e1
  variant carriers: 325
genotype quality: GenotypeQuality
  all individuals: 967
  bin: 8.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4688
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9613
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1879
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 5
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ

7-102994346-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102994346
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102994346
    reference: chr 7
allele count: 17
allele frequency: 1.441557560545418e-4
allele num: 117928
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-973G>A
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-22C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-22C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-22C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-973G>A
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-22C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-22C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-973G>A
  variant of: http://identifiers.org/hgnc/9359
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5944
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1061
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10719
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30865
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 558
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1218
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2898
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ClippingRankSum

7-102994347-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102994347
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102994347
    reference: chr 7
allele count: 5
allele frequency: 4.228186784379387e-5
allele num: 118254
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-21G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-974C>T
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-974C>T
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-21G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-21G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-974C>T
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-21G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-21G>A
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1564
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff

7-102994347-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102994347
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102994347
    reference: chr 7
allele count: 1
allele frequency: 8.456373568758774e-6
allele num: 118254
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-21G>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-21G>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-21G>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-21G>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-974C>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-21G>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-974C>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-974C>G
  variant of: http://identifiers.org/hgnc/9359
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8068
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2885
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1010
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 470
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

7-102994347-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102994347
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102994347
    reference: chr 7
allele count: 1
allele frequency: 8.456373568758774e-6
allele num: 118254
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-21G>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-21G>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-21G>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-974C>A
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-21G>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-974C>A
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-21G>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-974C>A
  variant of: http://identifiers.org/hgnc/9359
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 928
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31050
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1516
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5962
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34392
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

7-102994349-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102994349
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102994350
    reference: chr 7
allele count: 2
allele frequency: 1.686425957468337e-5
allele num: 118594
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-17dupT
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-977dupA
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-17dupT
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-977dupA
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-977dupA
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-17dupT
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-17dupT
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-17dupT
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10940
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31308
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2033
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1376
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

7-102994351-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102994351
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102994351
    reference: chr 7
allele count: 1
allele frequency: 8.416658250008417e-6
allele num: 118812
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-17T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-17T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-17T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-17T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-17T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-978A>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-978A>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-978A>G
  variant of: http://identifiers.org/hgnc/9359
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5970
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10978
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1254
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31465
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3305
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1009
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1565
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-102994352-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102994352
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102994352
    reference: chr 7
allele count: 2
allele frequency: 1.68143527314916e-5
allele num: 118946
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-16G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-16G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-979C>T
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-16G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-979C>T
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-16G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-16G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-979C>T
  variant of: http://identifiers.org/hgnc/9359
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 11024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2899
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1011
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: QD

7-102994352-GTC-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102994352
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102994350
    reference: chr 7
allele count: 1
allele frequency: 8.4071763657458e-6
allele num: 118946
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-981_1515-980delGA
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-10_71-9delCT
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-981_972-980delGA
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-10_-241-9delCT
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-10_71-9delCT
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-981_2042-980delGA
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-10_71-9delCT
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-10_71-9delCT
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3308
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 640
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5986
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: GTC
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: QD

7-102994353-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102994353
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102994353
    reference: chr 7
allele count: 1
allele frequency: 8.399832003359932e-6
allele num: 119050
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-241-15T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-980A>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.71-15T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.71-15T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-980A>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.71-15T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.71-15T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-980A>G
  variant of: http://identifiers.org/hgnc/9359
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11055
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5992
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31560
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 607
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1138
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2038
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35109
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5454
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: MQ

7-102994389-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102994389
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102994389
    reference: chr 7
allele count: 1
allele frequency: 8.307165761185599e-6
allele num: 120378
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1016G>A
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.92C>T
  hgvsp: ENSP00000391211.1:p.Ala31Val
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161057
  ensembl transcript: ENST00000460021
  gene symbol: PSMC2
  hgvsc: ENST00000460021.1:n.24C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-220C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.92C>T
  hgvsp: ENSP00000393027.1:p.Ala31Val
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.92C>T
  hgvsp: ENSP00000292644.3:p.Ala31Val
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.92C>T
  hgvsp: ENSP00000401724.1:p.Ala31Val
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1016G>A
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1016G>A
  variant of: http://identifiers.org/hgnc/9359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2003
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6059
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11867
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ala31Val
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

7-102994391-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102994391
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102994391
    reference: chr 7
allele count: 1
allele frequency: 8.307717869901138e-6
allele num: 120370
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.94T>G
  hgvsp: ENSP00000393027.1:p.Leu32Val
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.94T>G
  hgvsp: ENSP00000401724.1:p.Leu32Val
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1018A>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-218T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161057
  ensembl transcript: ENST00000460021
  gene symbol: PSMC2
  hgvsc: ENST00000460021.1:n.26T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.94T>G
  hgvsp: ENSP00000292644.3:p.Leu32Val
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.94T>G
  hgvsp: ENSP00000391211.1:p.Leu32Val
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1018A>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1018A>C
  variant of: http://identifiers.org/hgnc/9359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 496
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6042
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11892
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2905
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Leu32Val
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: DP

7-102994393-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102994393
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102994393
    reference: chr 7
allele count: 1
allele frequency: 8.3099270388406e-6
allele num: 120338
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1020C>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.96G>C
  hgvsp: ENSP00000393027.1:p.Leu32Phe
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-216G>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.96G>C
  hgvsp: ENSP00000401724.1:p.Leu32Phe
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1020C>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1020C>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.96G>C
  hgvsp: ENSP00000391211.1:p.Leu32Phe
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.96G>C
  hgvsp: ENSP00000292644.3:p.Leu32Phe
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161057
  ensembl transcript: ENST00000460021
  gene symbol: PSMC2
  hgvsc: ENST00000460021.1:n.28G>C
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11912
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2000
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31479
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2266
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2030
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu32Phe
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ

7-102994396-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102994396
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102994396
    reference: chr 7
allele count: 1
allele frequency: 8.314625426124552e-6
allele num: 120270
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.99G>A
  hgvsp: ENST00000292644.3:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1023C>T
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.99G>A
  hgvsp: ENST00000457587.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161057
  ensembl transcript: ENST00000460021
  gene symbol: PSMC2
  hgvsc: ENST00000460021.1:n.31G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-213G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.99G>A
  hgvsp: ENST00000435765.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.99G>A
  hgvsp: ENST00000425206.1:c.99G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1023C>T
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1023C>T
  variant of: http://identifiers.org/hgnc/9359
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3310
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 585
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31197
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1217
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 774
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35724
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2267
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Leu33Leu
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: G
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

7-102994412-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102994412
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102994412
    reference: chr 7
allele count: 1
allele frequency: 8.346966712296751e-6
allele num: 119804
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1039G>A
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-204+7C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.108+7C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.108+7C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.108+7C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl transcript: ENST00000460021
  gene symbol: PSMC2
  hgvsc: ENST00000460021.1:n.40+7C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1039G>A
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1039G>A
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.108+7C>T
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3307
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6032
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 765
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1783
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11882
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33802
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 8.25e1
  variant carriers: 0
hgvs: c.108+7C>T
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum

7-102994420-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102994420
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102994420
    reference: chr 7
allele count: 1
allele frequency: 8.368060785593547e-6
allele num: 119502
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.108+15T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.108+15T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1047A>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl transcript: ENST00000460021
  gene symbol: PSMC2
  hgvsc: ENST00000460021.1:n.40+15T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1047A>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-204+15T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.108+15T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1047A>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.108+15T>C
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1998
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2738
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 903
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5978
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11760
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27959
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2087
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 698
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8053
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

http://identifiers.org/exac.variant/7-102994426-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102994426
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102994426
    reference: chr 7
allele count: 63
allele frequency: 5.281778701856168e-4
allele num: 119278
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.108+21C>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.108+21C>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-204+21C>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.108+21C>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1053G>T
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.108+21C>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1053G>T
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl transcript: ENST00000460021
  gene symbol: PSMC2
  hgvsc: ENST00000460021.1:n.40+21C>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1053G>T
  variant of: http://identifiers.org/hgnc/9359
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 11643
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3311
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2007
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 3704
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 563
  bin: 5.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 983
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 806
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5978
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 26190
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1968
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8104
  bin: 9.75e1
  variant carriers: 63
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1108
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: South Asian
population: European (Finnish)
population: Other
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum

7-102994429-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102994429
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102994429
    reference: chr 7
allele count: 1
allele frequency: 8.38799510141086e-6
allele num: 119218
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1056T>A
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1056T>A
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1056T>A
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-204+24A>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.108+24A>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.108+24A>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.108+24A>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl transcript: ENST00000460021
  gene symbol: PSMC2
  hgvsc: ENST00000460021.1:n.40+24A>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.108+24A>T
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1022
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5959
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1996
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2672
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3303
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1912
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2827
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ

7-102994431-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102994431
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102994431
    reference: chr 7
allele count: 1
allele frequency: 8.3948959032908e-6
allele num: 119120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-204+26T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.108+26T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.108+26T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.108+26T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl transcript: ENST00000460021
  gene symbol: PSMC2
  hgvsc: ENST00000460021.1:n.40+26T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.108+26T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1058A>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1058A>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1058A>G
  variant of: http://identifiers.org/hgnc/9359
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3549
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11376
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 800
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5939
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3300
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8052
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3032
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2333
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-102994432-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102994432
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102994432
    reference: chr 7
allele count: 1
allele frequency: 8.39433214693439e-6
allele num: 119128
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-204+27A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1059T>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.108+27A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.108+27A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1059T>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1059T>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.108+27A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.108+27A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl transcript: ENST00000460021
  gene symbol: PSMC2
  hgvsc: ENST00000460021.1:n.40+27A>G
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3548
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4911
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23653
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 893
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1994
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1257
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2332
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27559
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2823
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

7-102994433-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102994433
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102994433
    reference: chr 7
allele count: 1
allele frequency: 8.399973120086016e-6
allele num: 119048
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.108+28T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-204+28T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.108+28T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1060A>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1060A>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.108+28T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1060A>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl transcript: ENST00000460021
  gene symbol: PSMC2
  hgvsc: ENST00000460021.1:n.40+28T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.108+28T>C
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1977
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1557
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2612
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

7-102994433-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102994433
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102994433
    reference: chr 7
allele count: 2
allele frequency: 1.679994624017203e-5
allele num: 119048
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.108+28T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1060A>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.108+28T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl transcript: ENST00000460021
  gene symbol: PSMC2
  hgvsc: ENST00000460021.1:n.40+28T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-204+28T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1060A>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.108+28T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.108+28T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1060A>C
  variant of: http://identifiers.org/hgnc/9359
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5916
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 389
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1070
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4410
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22590
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3299
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11222
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5294
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1384
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25952
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3190
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
reference allele: T
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

7-102994445-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102994445
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102994445
    reference: chr 7
allele count: 7
allele frequency: 5.90946696607966e-5
allele num: 118454
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.108+40G>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1072C>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.108+40G>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1072C>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.108+40G>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.108+40G>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-204+40G>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1072C>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl transcript: ENST00000460021
  gene symbol: PSMC2
  hgvsc: ENST00000460021.1:n.40+40G>C
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5595
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17924
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9766
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1992
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9975
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1792
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1002
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum

7-102994451-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102994451
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102994451
    reference: chr 7
allele count: 1
allele frequency: 8.465823470648991e-6
allele num: 118122
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.108+46A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.108+46A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1078T>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1078T>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.108+46A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-204+46A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1078T>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.108+46A>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl transcript: ENST00000460021
  gene symbol: PSMC2
  hgvsc: ENST00000460021.1:n.40+46A>G
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5427
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1987
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3266
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 169
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10281
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5918
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1215
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8979
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8052
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3238
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3919
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4610
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1975
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

7-102995272-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102995272
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102995272
    reference: chr 7
allele count: 1
allele frequency: 9.072269700433655e-6
allele num: 110226
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1899A>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1899A>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-203-43T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl transcript: ENST00000460021
  gene symbol: PSMC2
  hgvsc: ENST00000460021.1:n.41-43T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.109-43T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.109-43T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.109-43T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.109-43T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1899A>G
  variant of: http://identifiers.org/hgnc/9359
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9109
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13595
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5142
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17268
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5347
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5986
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21280
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/7-102995275-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102995275
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102995275
    reference: chr 7
allele count: 1
allele frequency: 9.052395263786798e-6
allele num: 110468
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.109-40A>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.109-40A>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl transcript: ENST00000460021
  gene symbol: PSMC2
  hgvsc: ENST00000460021.1:n.41-40A>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.109-40A>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1902T>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.109-40A>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1902T>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-203-40A>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1902T>G
  variant of: http://identifiers.org/hgnc/9359
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19710
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12923
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2819
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8374
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1139
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2602
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5532
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

7-102995278-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102995278
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102995278
    reference: chr 7
allele count: 2
allele frequency: 1.807305127324646e-5
allele num: 110662
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.109-37T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.109-37T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.109-37T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1905A>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1905A>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.109-37T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-203-37T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1905A>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl transcript: ENST00000460021
  gene symbol: PSMC2
  hgvsc: ENST00000460021.1:n.41-37T>C
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11820
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1167
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2852
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22692
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8525
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5084
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 429
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1957
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4910
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3255
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4823
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/7-102995279-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102995279
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102995279
    reference: chr 7
allele count: 3
allele frequency: 2.710810713123938e-5
allele num: 110668
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.109-36C>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1906G>T
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl transcript: ENST00000460021
  gene symbol: PSMC2
  hgvsc: ENST00000460021.1:n.41-36C>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.109-36C>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1906G>T
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1906G>T
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-203-36C>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.109-36C>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.109-36C>A
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11287
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5055
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4586
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23707
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8644
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4546
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3240
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1812
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 568
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4769
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2469
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: DP

7-102995281-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102995281
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102995281
    reference: chr 7
allele count: 4
allele frequency: 3.609000848115199e-5
allele num: 110834
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.109-34T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl transcript: ENST00000460021
  gene symbol: PSMC2
  hgvsc: ENST00000460021.1:n.41-34T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.109-34T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1908A>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.109-34T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1908A>G
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-203-34T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.109-34T>C
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1908A>G
  variant of: http://identifiers.org/hgnc/9359
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1173
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4974
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2940
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3695
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25405
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10249
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 758
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5107
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: FS
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

7-102995293-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102995293
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102995293
    reference: chr 7
allele count: 1
allele frequency: 8.828462964597864e-6
allele num: 113270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1920A>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.109-22T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl transcript: ENST00000460021
  gene symbol: PSMC2
  hgvsc: ENST00000460021.1:n.41-22T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-203-22T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1920A>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.109-22T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.109-22T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.109-22T>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1920A>C
  variant of: http://identifiers.org/hgnc/9359
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5271
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1176
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10122
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32564
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3048
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3962
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1664
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 440
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2336
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: DP

7-102995301-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102995301
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102995301
    reference: chr 7
allele count: 1
allele frequency: 8.68704067272443e-6
allele num: 115114
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.109-14C>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1928G>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl transcript: ENST00000460021
  gene symbol: PSMC2
  hgvsc: ENST00000460021.1:n.41-14C>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.109-14C>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1928G>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-203-14C>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.109-14C>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1928G>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.109-14C>G
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10958
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3077
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3078
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1183
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 805
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41488
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3287
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3731
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 886
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

7-102995310-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102995310
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102995310
    reference: chr 7
allele count: 1
allele frequency: 8.555783709787816e-6
allele num: 116880
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.109-5C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.109-5C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1937G>A
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.109-5C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-203-5C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.109-5C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1937G>A
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000161057
  ensembl transcript: ENST00000460021
  gene symbol: PSMC2
  hgvsc: ENST00000460021.1:n.41-5C>T
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1937G>A
  variant of: http://identifiers.org/hgnc/9359
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11750
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1766
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3180
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36811
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1185
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1193
  bin: 7.75e1
  variant carriers: 0
hgvs: c.109-5C>T
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: MQ
site quality: DP
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-102995318-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102995318
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102995318
    reference: chr 7
allele count: 1
allele frequency: 8.480901010923401e-6
allele num: 117912
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1945G>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.112C>G
  hgvsp: ENSP00000391211.1:p.Gln38Glu
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.112C>G
  hgvsp: ENSP00000393027.1:p.Gln38Glu
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.112C>G
  hgvsp: ENSP00000401724.1:p.Gln38Glu
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.112C>G
  hgvsp: ENSP00000292644.3:p.Gln38Glu
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-200C>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161057
  ensembl transcript: ENST00000460021
  gene symbol: PSMC2
  hgvsc: ENST00000460021.1:n.44C>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1945G>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1945G>C
  variant of: http://identifiers.org/hgnc/9359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 480
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1191
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1152
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12324
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 322
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1709
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37362
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Gln38Glu
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-102995322-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102995322
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102995322
    reference: chr 7
allele count: 1
allele frequency: 8.449799739746167e-6
allele num: 118346
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1949C>T
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1949C>T
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.116G>A
  hgvsp: ENSP00000391211.1:p.Ser39Asn
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-196G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1949C>T
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161057
  ensembl transcript: ENST00000460021
  gene symbol: PSMC2
  hgvsc: ENST00000460021.1:n.48G>A
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.116G>A
  hgvsp: ENSP00000393027.1:p.Ser39Asn
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.116G>A
  hgvsp: ENSP00000401724.1:p.Ser39Asn
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.116G>A
  hgvsp: ENSP00000292644.3:p.Ser39Asn
  variant of: http://identifiers.org/hgnc/9548
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3291
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12515
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37556
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1501
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 452
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3416
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1772
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45777
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser39Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

7-102995325-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 102995325
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 102995325
    reference: chr 7
allele count: 5
allele frequency: 4.218483708215919e-5
allele num: 118526
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000445546
  ensembl transcript: ENST00000544811
  gene symbol: PSMC2
  hgvsc: ENST00000544811.1:c.-193C>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000342396
  ensembl transcript: ENST00000339444
  gene symbol: SLC26A5
  hgvsc: ENST00000339444.6:c.2042-1952G>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000349210
  ensembl transcript: ENST00000356767
  gene symbol: SLC26A5
  hgvsc: ENST00000356767.4:c.972-1952G>C
  variant of: http://identifiers.org/hgnc/9359
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000292644
  ensembl transcript: ENST00000292644
  gene symbol: PSMC2
  hgvsc: ENST00000292644.3:c.119C>G
  hgvsp: ENSP00000292644.3:p.Thr40Ser
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000161057
  ensembl transcript: ENST00000460021
  gene symbol: PSMC2
  hgvsc: ENST00000460021.1:n.51C>G
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000393027
  ensembl transcript: ENST00000425206
  gene symbol: PSMC2
  hgvsc: ENST00000425206.1:c.119C>G
  hgvsp: ENSP00000393027.1:p.Thr40Ser
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000401724
  ensembl transcript: ENST00000457587
  gene symbol: PSMC2
  hgvsc: ENST00000457587.1:c.119C>G
  hgvsp: ENSP00000401724.1:p.Thr40Ser
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000161057
  ensembl protein: ENSP00000391211
  ensembl transcript: ENST00000435765
  gene symbol: PSMC2
  hgvsc: ENST00000435765.1:c.119C>G
  hgvsp: ENSP00000391211.1:p.Thr40Ser
  variant of: http://identifiers.org/hgnc/9548
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000170615
  ensembl protein: ENSP00000377336
  ensembl transcript: ENST00000393735
  gene symbol: SLC26A5
  hgvsc: ENST00000393735.2:c.1515-1952G>C
  variant of: http://identifiers.org/hgnc/9359
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1418
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 240
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 133
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12672
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37630
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 134
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 321
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 580
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1188
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4023
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 437
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr40Ser
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3686
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2366
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4786
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4261
bin: 8.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
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: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: -4.44e-2

FS
type: SiteQuality
SIO_000300: 2.434e0

MQRankSum
type: SiteQuality
SIO_000300: 2.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.49e-1

QD
type: SiteQuality
SIO_000300: 7.12e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

DP
type: SiteQuality
SIO_000300: 2.495771e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.04e-1

GenotypeQuality
all individuals: 2361
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3142
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11461
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3684
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 5
allele frequency: 5.779010633379565e-4
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 157
allele frequency: 1.510196229318969e-2
allele num: 10396
num of homozygotes: 0

Other
type: Population
allele count: 0
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allele num: 904
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 4
allele frequency: 3.457216940363008e-4
allele num: 11570
num of homozygotes: 0

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

South Asian
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allele count: 4
allele frequency: 2.422480620155039e-4
allele num: 16512
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.38e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.09e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.972e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.18e-1

QD
type: SiteQuality
SIO_000300: 1.217e1

DP
type: SiteQuality
SIO_000300: 2.499491e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.29e-1

GenotypeQuality
all individuals: 0
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variant carriers: 0

GenotypeQuality
all individuals: 15
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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

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: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

European (Finnish)
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allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 7.448e0

MQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.86e-1

VQSLOD
type: SiteQuality
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MQ
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SIO_000300: 5.976e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

QD
type: SiteQuality
SIO_000300: 1.814e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.087e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16512
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: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -8.139e-1

BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

InbreedingCoeff
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 9.279999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.83e-1

FS
type: SiteQuality
SIO_000300: 1.582e0

MQ
type: SiteQuality
SIO_000300: 5.882e1

DP
type: SiteQuality
SIO_000300: 2.489649e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 0
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GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.728907330567082e-4
allele num: 11568
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e-1

DP
type: SiteQuality
SIO_000300: 2.489661e6

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -4.522e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.129999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 7.181e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

QD
type: SiteQuality
SIO_000300: 7.89e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66694
num of homozygotes: 0

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

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

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

South Asian
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allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.934e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.051e-1

QD
type: SiteQuality
SIO_000300: 8.74e0

MQRankSum
type: SiteQuality
SIO_000300: -8.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.11e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.78e-1

DP
type: SiteQuality
SIO_000300: 2.489385e6

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
all individuals: 9
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056201550387597e-5
allele num: 16512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66688
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

QD
type: SiteQuality
SIO_000300: 2.361e1

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.994e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e-1

DP
type: SiteQuality
SIO_000300: 2.489159e6

VQSLOD
type: SiteQuality
SIO_000300: -2.145e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

Latino
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allele frequency: 0.0e0
allele num: 11564
num of homozygotes: 0

South Asian
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allele frequency: 0.0e0
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African
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allele frequency: 9.628345850182938e-5
allele num: 10386
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8650
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66680
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.098e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
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QD
type: SiteQuality
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DP
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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MQRankSum
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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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
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allele frequency: 1.15606936416185e-4
allele num: 8650
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Other
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African
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allele count: 0
allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
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num of homozygotes: 0

QD
type: SiteQuality
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InbreedingCoeff
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
type: SiteQuality
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VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.205e0

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
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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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.652015919709292e-5
allele num: 11558
num of homozygotes: 0

Other
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European (Finnish)
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allele frequency: 0.0e0
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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 frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

African
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allele num: 10384
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VQSLOD
type: SiteQuality
SIO_000300: 7.42e-1

ClippingRankSum
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MQ
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BaseQRankSum
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QD
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DP
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FS
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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allele frequency: 9.632055480639569e-5
allele num: 10382
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
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Latino
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European (Non-Finnish)
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allele frequency: 2.702865036939156e-4
allele num: 66596
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East Asian
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South Asian
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Other
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InbreedingCoeff
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ReadPosRankSum
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MQ
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VQSLOD
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QD
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ClippingRankSum
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DP
type: SiteQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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Other
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African
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East Asian
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European (Non-Finnish)
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European (Finnish)
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allele frequency: 1.51285930408472e-4
allele num: 6610
num of homozygotes: 0

Latino
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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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MQ
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
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InbreedingCoeff
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ReadPosRankSum
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QD
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BaseQRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.665511265164645e-5
allele num: 11540
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Other
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East Asian
type: Population
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African
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allele frequency: 1.446201311222522e-3
allele num: 10372
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66538
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South Asian
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num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.499e0

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.74e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.482e1

DP
type: SiteQuality
SIO_000300: 2.457404e6

MQ
type: SiteQuality
SIO_000300: 5.97e1

MQRankSum
type: SiteQuality
SIO_000300: 3.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.75e-1

GenotypeQuality
all individuals: 24082
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 593
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5626
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66514
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.058403004967891e-5
allele num: 16506
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -5.139e0

MQ
type: SiteQuality
SIO_000300: 5.913e1

DP
type: SiteQuality
SIO_000300: 2.442158e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.38e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 3.104e0

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-2

QD
type: SiteQuality
SIO_000300: 1.471e1

GenotypeQuality
all individuals: 1096
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4452
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 287
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 403
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5303
bin: 6.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10370
num of homozygotes: 0

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

Latino
type: Population
allele count: 10
allele frequency: 8.664009703690869e-4
allele num: 11542
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.19e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.432e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.197e0

VQSLOD
type: SiteQuality
SIO_000300: 5.0e0

DP
type: SiteQuality
SIO_000300: 2.426025e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.55e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

GenotypeQuality
all individuals: 859
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 502
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1842
bin: 5.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.654373431164318e-5
allele num: 10358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66446
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.57e0

QD
type: SiteQuality
SIO_000300: 9.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

DP
type: SiteQuality
SIO_000300: 2.4137e6

VQSLOD
type: SiteQuality
SIO_000300: -1.059e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 400
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59251
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
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: 16504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498890820792613e-5
allele num: 66716
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 9790
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 7.06e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

FS
type: SiteQuality
SIO_000300: 4.314e0

VQSLOD
type: SiteQuality
SIO_000300: 5.85e-1

DP
type: SiteQuality
SIO_000300: 6.975912e6

QD
type: SiteQuality
SIO_000300: 1.564e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.221e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.612e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

GenotypeQuality
all individuals: 54
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 465
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 42
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59252
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 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: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.042483660130719e-4
allele num: 9792
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
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: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 6.975988e6

FS
type: SiteQuality
SIO_000300: 6.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.24e0

QD
type: SiteQuality
SIO_000300: 1.325e1

MQRankSum
type: SiteQuality
SIO_000300: 4.0e-3

MQ
type: SiteQuality
SIO_000300: 5.953e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.61e-1

GenotypeQuality
all individuals: 43
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 59252
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 44
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 486
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 7.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66722
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9792
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
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: 16504
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.73e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.93e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.24e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 6.976038e6

QD
type: SiteQuality
SIO_000300: 1.265e1

VQSLOD
type: SiteQuality
SIO_000300: 4.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.77e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

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

GenotypeQuality
all individuals: 48
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 516
bin: 6.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997961386257345e-5
allele num: 66712
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9790
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 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: 11570
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

VQSLOD
type: SiteQuality
SIO_000300: -2.567e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.741e0

FS
type: SiteQuality
SIO_000300: 1.556e0

QD
type: SiteQuality
SIO_000300: 1.168e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.52e0

MQRankSum
type: SiteQuality
SIO_000300: 6.21e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.1e-2

DP
type: SiteQuality
SIO_000300: 6.976228e6

GenotypeQuality
all individuals: 54
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59252
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 21
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9788
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 900
num of homozygotes: 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: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66712
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.415e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 6.97614e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.98e0

QD
type: SiteQuality
SIO_000300: 1.435e1

VQSLOD
type: SiteQuality
SIO_000300: 5.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.051e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.38e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.63e-2

GenotypeQuality
all individuals: 16
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 70
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 56
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: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.392e0

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

VQSLOD
type: SiteQuality
SIO_000300: 4.55e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

QD
type: SiteQuality
SIO_000300: 1.431e1

FS
type: SiteQuality
SIO_000300: 1.983e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.83e-2

DP
type: SiteQuality
SIO_000300: 6.976046e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.065e0

GenotypeQuality
all individuals: 54
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 59252
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.75e1
variant carriers: 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: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.497211728728189e-5
allele num: 66708
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9786
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.76e-2

DP
type: SiteQuality
SIO_000300: 6.976347e6

QD
type: SiteQuality
SIO_000300: 1.166e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 1.39e0

FS
type: SiteQuality
SIO_000300: 1.914e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: 1.29e-1

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9782
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: 66700
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.059871530723549e-5
allele num: 16502
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: -8.78e-2

MQ
type: SiteQuality
SIO_000300: 5.941e1

FS
type: SiteQuality
SIO_000300: 4.82e0

QD
type: SiteQuality
SIO_000300: 1.158e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.75e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.06e-2

MQRankSum
type: SiteQuality
SIO_000300: -9.409999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.741e0

DP
type: SiteQuality
SIO_000300: 6.975922e6

GenotypeQuality
all individuals: 69
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.75e1
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GenotypeQuality
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GenotypeQuality
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bin: 7.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.022494887525562e-4
allele num: 9780
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: 900
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 5.05e0

DP
type: SiteQuality
SIO_000300: 6.975853e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.06e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.07e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

MQRankSum
type: SiteQuality
SIO_000300: 3.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.44e0

QD
type: SiteQuality
SIO_000300: 1.364e1

GenotypeQuality
all individuals: 73
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 501
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 1

GenotypeQuality
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GenotypeQuality
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bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 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: 16502
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9780
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

FS
type: SiteQuality
SIO_000300: 2.437e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.042e0

QD
type: SiteQuality
SIO_000300: 1.227e1

DP
type: SiteQuality
SIO_000300: 6.97677e6

MQ
type: SiteQuality
SIO_000300: 5.94e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

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

GenotypeQuality
all individuals: 501
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 12
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variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 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: 2
allele frequency: 2.998410842253606e-5
allele num: 66702
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.319109461966605e-4
allele num: 8624
num of homozygotes: 0

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

African
type: Population
allele count: 5
allele frequency: 5.112474437627812e-4
allele num: 9780
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: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.42e-1

FS
type: SiteQuality
SIO_000300: 2.437e0

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.042e0

MQRankSum
type: SiteQuality
SIO_000300: 2.8e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

DP
type: SiteQuality
SIO_000300: 6.97677e6

QD
type: SiteQuality
SIO_000300: 1.227e1

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 68
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variant carriers: 0

GenotypeQuality
all individuals: 1
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variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.972e1

DP
type: SiteQuality
SIO_000300: 6.975556e6

MQRankSum
type: SiteQuality
SIO_000300: 1.87e0

VQSLOD
type: SiteQuality
SIO_000300: -7.723e-1

FS
type: SiteQuality
SIO_000300: 6.48e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.36e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.879999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.441e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9778
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: 900
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499205421126803e-5
allele num: 66702
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.934e1

MQRankSum
type: SiteQuality
SIO_000300: -2.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.06e0

DP
type: SiteQuality
SIO_000300: 6.975578e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.8e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.7e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.0e-2

QD
type: SiteQuality
SIO_000300: 1.152e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.14e-1

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 4

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.75e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.424242424242424e-4
allele num: 16500
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9772
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66686
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.97e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.5e-2

FS
type: SiteQuality
SIO_000300: 5.2e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.315e1

VQSLOD
type: SiteQuality
SIO_000300: 8.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.76e-1

DP
type: SiteQuality
SIO_000300: 6.975511e6

MQRankSum
type: SiteQuality
SIO_000300: 6.8e-2

GenotypeQuality
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bin: 2.5e0
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999130252226854e-5
allele num: 66686
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
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allele count: 0
allele frequency: 0.0e0
allele num: 16500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: -1.96e-1

MQ
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 6.975389e6

VQSLOD
type: SiteQuality
SIO_000300: 8.59e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.193e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

QD
type: SiteQuality
SIO_000300: 1.248e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 72
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GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
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: 66680
num of homozygotes: 0

South Asian
type: Population
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allele num: 16500
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.047502047502048e-4
allele num: 9768
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.23e-1

MQ
type: SiteQuality
SIO_000300: 5.947e1

FS
type: SiteQuality
SIO_000300: 2.471e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.088e0

MQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.9e0

DP
type: SiteQuality
SIO_000300: 6.975361e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

QD
type: SiteQuality
SIO_000300: 1.299e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9770
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: 900
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999490086685263e-5
allele num: 66678
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.4e-2

MQ
type: SiteQuality
SIO_000300: 5.936e1

DP
type: SiteQuality
SIO_000300: 6.974992e6

FS
type: SiteQuality
SIO_000300: 4.194e0

VQSLOD
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.068e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.56e-1

QD
type: SiteQuality
SIO_000300: 1.228e1

GenotypeQuality
all individuals: 97
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 71
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 88
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 462
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 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: 11568
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06134076857801e-5
allele num: 16498
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.34e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e-1

QD
type: SiteQuality
SIO_000300: 1.344e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.982e1

MQRankSum
type: SiteQuality
SIO_000300: 5.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.583e0

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 6.97472e6

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 105
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59252
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 66
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999580058791769e-5
allele num: 66676
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9768
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 9.19e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.017e0

QD
type: SiteQuality
SIO_000300: 1.319e1

VQSLOD
type: SiteQuality
SIO_000300: -1.024e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.9e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.41e0

DP
type: SiteQuality
SIO_000300: 6.97479e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.925e1

GenotypeQuality
all individuals: 3
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 104
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59252
bin: 9.75e1
variant carriers: 7

European (Non-Finnish)
type: Population
allele count: 6
allele frequency: 9.003061040753856e-5
allele num: 66644
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.023960679909891e-4
allele num: 9766
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8624
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.45e0

QD
type: SiteQuality
SIO_000300: 1.399e1

DP
type: SiteQuality
SIO_000300: 6.971948e6

MQRankSum
type: SiteQuality
SIO_000300: 6.0e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 6.94e-1

MQ
type: SiteQuality
SIO_000300: 5.986e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.4e-2

GenotypeQuality
all individuals: 1526
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3956
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2669
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 975
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2177
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 360
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4870
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1850
bin: 7.25e1
variant carriers: 4

GenotypeQuality
all individuals: 2728
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4648
bin: 5.25e1
variant carriers: 2

GenotypeQuality
all individuals: 2741
bin: 7.75e1
variant carriers: 2

African
type: Population
allele count: 322
allele frequency: 3.317535545023697e-2
allele num: 9706
num of homozygotes: 5

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15710
num of homozygotes: 0

Other
type: Population
allele count: 2
allele frequency: 2.34192037470726e-3
allele num: 854
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6374
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7948
num of homozygotes: 0

Latino
type: Population
allele count: 13
allele frequency: 1.188082617437397e-3
allele num: 10942
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.154505871487004e-4
allele num: 60632
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

QD
type: SiteQuality
SIO_000300: 1.717e1

VQSLOD
type: SiteQuality
SIO_000300: 3.06e0

FS
type: SiteQuality
SIO_000300: 1.045e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.199999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.561959e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.16e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 524
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1685
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1569
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 34002
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 266
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5351
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8071
bin: 9.75e1
variant carriers: 17

GenotypeQuality
all individuals: 179
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2262
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 11
allele frequency: 1.706008250876268e-4
allele num: 64478
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.823182711198428e-5
allele num: 10180
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.116429818000498e-4
allele num: 16044
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 6.6e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

MQ
type: SiteQuality
SIO_000300: 5.961e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.153e0

MQRankSum
type: SiteQuality
SIO_000300: 4.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.99e0

QD
type: SiteQuality
SIO_000300: 1.229e1

DP
type: SiteQuality
SIO_000300: 1.758061e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.68e-1

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2885
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2265
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34392
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1531
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5390
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2026
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8068
bin: 9.75e1
variant carriers: 5

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64696
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.795074758135444e-5
allele num: 11370
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.48849073037203e-4
allele num: 16074
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.23e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

DP
type: SiteQuality
SIO_000300: 1.762377e6

FS
type: SiteQuality
SIO_000300: 1.449e0

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

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

GenotypeQuality
all individuals: 7
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 368
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1531
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2026
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34392
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5390
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1564
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64696
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11370
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.180358829084042e-4
allele num: 8472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

FS
type: SiteQuality
SIO_000300: 1.449e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

QD
type: SiteQuality
SIO_000300: 1.23e1

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.762377e6

GenotypeQuality
all individuals: 470
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2026
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2265
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1531
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5390
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8068
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 231
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2885
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1564
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1010
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8472
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64696
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10202
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.795074758135444e-5
allele num: 11370
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.03e0

MQRankSum
type: SiteQuality
SIO_000300: 3.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.17e-1

DP
type: SiteQuality
SIO_000300: 1.762377e6

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.449e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

QD
type: SiteQuality
SIO_000300: 1.23e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.17e-1

GenotypeQuality
all individuals: 2901
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2277
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 374
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 5439
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 166
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1564
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8063
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 34762
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11384
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.079860790292279e-5
allele num: 64938
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16112
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.159999999999999e-1

FS
type: SiteQuality
SIO_000300: 1.943e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.6e-2

MQRankSum
type: SiteQuality
SIO_000300: 9.75e-1

DP
type: SiteQuality
SIO_000300: 1.766361e6

VQSLOD
type: SiteQuality
SIO_000300: 1.84e0

MQ
type: SiteQuality
SIO_000300: 5.843e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.1e-3

QD
type: SiteQuality
SIO_000300: 1.207e1

GenotypeQuality
all individuals: 74
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5449
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1275
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34994
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2902
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2035
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 5.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10230
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65096
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.199628022318661e-5
allele num: 16130
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11400
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.933e1

FS
type: SiteQuality
SIO_000300: 3.749e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.91e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.31e-1

QD
type: SiteQuality
SIO_000300: 1.063e1

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.26e-1

DP
type: SiteQuality
SIO_000300: 1.769306e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.16e-1

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

GenotypeQuality
all individuals: 8061
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 35053
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1565
bin: 9.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 4.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2271
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.194251734390486e-5
allele num: 16144
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534118802160039e-5
allele num: 65184
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.201e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.02e-1

FS
type: SiteQuality
SIO_000300: 1.8444e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -3.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

DP
type: SiteQuality
SIO_000300: 1.771164e6

QD
type: SiteQuality
SIO_000300: 1.11e1

GenotypeQuality
all individuals: 1216
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1565
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35053
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 303
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 245
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2271
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5445
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2899
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8061
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1011
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65184
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8508
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16144
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.765778401122019e-5
allele num: 11408
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -9.201e-1

FS
type: SiteQuality
SIO_000300: 1.8444e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.85e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 7.02e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.69e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.771164e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e0

QD
type: SiteQuality
SIO_000300: 1.11e1

GenotypeQuality
all individuals: 4
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 230
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 87
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 24
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variant carriers: 0

GenotypeQuality
all individuals: 2274
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variant carriers: 0

GenotypeQuality
all individuals: 1565
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2905
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8059
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variant carriers: 1

GenotypeQuality
all individuals: 1011
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 62
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.187353050365054e-5
allele num: 16162
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65252
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11412
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 9.52e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.39e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.81e0

DP
type: SiteQuality
SIO_000300: 1.772297e6

MQRankSum
type: SiteQuality
SIO_000300: -4.45e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.95e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.524e0

QD
type: SiteQuality
SIO_000300: 1.289e1

MQ
type: SiteQuality
SIO_000300: 5.945e1

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1563
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 117
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 107
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variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8056
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5531
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2906
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2033
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36098
bin: 6.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11488
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
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: 1
allele frequency: 6.128201985537444e-5
allele num: 16318
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66130
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.790374e6

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.999e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.93e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.12e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.84e-1

QD
type: SiteQuality
SIO_000300: 4.68e0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 147
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
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variant carriers: 0

GenotypeQuality
all individuals: 3
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variant carriers: 0

GenotypeQuality
all individuals: 36101
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variant carriers: 0

GenotypeQuality
all individuals: 54
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variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 1009
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 644
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variant carriers: 0

GenotypeQuality
all individuals: 5537
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8056
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 128
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2033
bin: 7.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.162520344106022e-4
allele num: 8602
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16322
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66122
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.69e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.324e0

FS
type: SiteQuality
SIO_000300: 8.127000000000001e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.94e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 8.43e0

DP
type: SiteQuality
SIO_000300: 1.789706e6

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 22
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variant carriers: 0

GenotypeQuality
all individuals: 666
bin: 2.25e1
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GenotypeQuality
all individuals: 2899
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
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variant carriers: 0

GenotypeQuality
all individuals: 36017
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
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variant carriers: 0

GenotypeQuality
all individuals: 99
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GenotypeQuality
all individuals: 1009
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 53
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5532
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 5.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11486
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66102
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.128953174797744e-5
allele num: 16316
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.61e0

MQRankSum
type: SiteQuality
SIO_000300: 1.54e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

FS
type: SiteQuality
SIO_000300: 2.692e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.08e0

DP
type: SiteQuality
SIO_000300: 1.789364e6

QD
type: SiteQuality
SIO_000300: 1.279e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.6e-1

MQ
type: SiteQuality
SIO_000300: 5.973e1

GenotypeQuality
all individuals: 86
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
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variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 115
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GenotypeQuality
all individuals: 9
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variant carriers: 0

GenotypeQuality
all individuals: 2895
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variant carriers: 0

GenotypeQuality
all individuals: 20
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GenotypeQuality
all individuals: 205
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GenotypeQuality
all individuals: 41
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GenotypeQuality
all individuals: 5523
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variant carriers: 0

GenotypeQuality
all individuals: 1562
bin: 9.25e1
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GenotypeQuality
all individuals: 2029
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8053
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1009
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.680542110358181e-5
allele num: 10330
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: 0
allele frequency: 0.0e0
allele num: 11478
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66062
num of homozygotes: 0

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

East Asian
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allele frequency: 0.0e0
allele num: 8588
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.111e0

QD
type: SiteQuality
SIO_000300: 9.16e0

VQSLOD
type: SiteQuality
SIO_000300: 2.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 1.787969e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.86e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.36e-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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bin: 9.75e1
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GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

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: 11448
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65710
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8564
num of homozygotes: 0

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

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

South Asian
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allele count: 1
allele frequency: 6.145526057030482e-5
allele num: 16272
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

DP
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FS
type: SiteQuality
SIO_000300: 3.389e0

VQSLOD
type: SiteQuality
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BaseQRankSum
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SIO_000300: -5.188e0

InbreedingCoeff
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SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.992e1

ReadPosRankSum
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QD
type: SiteQuality
SIO_000300: 1.287e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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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

European (Non-Finnish)
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allele frequency: 1.526904049349539e-5
allele num: 65492
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11422
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

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

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

East Asian
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allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
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DP
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SIO_000300: 1.756997e6

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

FS
type: SiteQuality
SIO_000300: 6.598e0

MQRankSum
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.99e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.408e1

GenotypeQuality
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variant carriers: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 65316
num of homozygotes: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8530
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.761170492377782e-5
allele num: 11414
num of homozygotes: 0

African
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allele count: 61
allele frequency: 5.913144629701435e-3
allele num: 10316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16232
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.11358574610245e-3
allele num: 898
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.4e0

DP
type: SiteQuality
SIO_000300: 1.744197e6

FS
type: SiteQuality
SIO_000300: 6.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

QD
type: SiteQuality
SIO_000300: 1.165e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.19e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.9e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.557e0

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: 1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.17426021606388e-4
allele num: 8516
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16234
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11414
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65272
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.17e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

FS
type: SiteQuality
SIO_000300: 9.259e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.17e-1

QD
type: SiteQuality
SIO_000300: 1.079e1

VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.35e0

MQRankSum
type: SiteQuality
SIO_000300: 5.0e-2

DP
type: SiteQuality
SIO_000300: 1.732051e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
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variant carriers: 0

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

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65202
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
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allele frequency: 6.16294835449279e-5
allele num: 16226
num of homozygotes: 0

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

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

FS
type: SiteQuality
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QD
type: SiteQuality
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MQ
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BaseQRankSum
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ClippingRankSum
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VQSLOD
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DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 1.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65210
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

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

Latino
type: Population
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allele frequency: 0.0e0
allele num: 11410
num of homozygotes: 0

East Asian
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allele frequency: 0.0e0
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South Asian
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allele frequency: 6.16370808678501e-5
allele num: 16224
num of homozygotes: 0

Other
type: Population
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num of homozygotes: 0

QD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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FS
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ClippingRankSum
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VQSLOD
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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DP
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GenotypeQuality
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bin: 6.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
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South Asian
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num of homozygotes: 0

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

European (Finnish)
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allele num: 6566
num of homozygotes: 0

Latino
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Other
type: Population
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European (Non-Finnish)
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QD
type: SiteQuality
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MQ
type: SiteQuality
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BaseQRankSum
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ClippingRankSum
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FS
type: SiteQuality
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ReadPosRankSum
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DP
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InbreedingCoeff
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MQRankSum
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VQSLOD
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GenotypeQuality
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bin: 8.75e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 3.75e1
variant carriers: 0

Other
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allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

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

European (Non-Finnish)
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allele frequency: 3.069273502961849e-5
allele num: 65162
num of homozygotes: 0

African
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Latino
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East Asian
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FS
type: SiteQuality
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DP
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InbreedingCoeff
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BaseQRankSum
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QD
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MQ
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VQSLOD
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ClippingRankSum
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MQRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 4.75e1
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GenotypeQuality
all individuals: 8057
bin: 9.75e1
variant carriers: 7

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16158
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10278
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6556
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11366
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.081081081081081e-4
allele num: 64750
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.09e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.76e-1

DP
type: SiteQuality
SIO_000300: 1.66865e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 1.677e0

QD
type: SiteQuality
SIO_000300: 1.253e1

BaseQRankSum
type: SiteQuality
SIO_000300: 9.83e-1

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 1908
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 271
bin: 1.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11334
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10270
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6554
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64510
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.201935003721161e-5
allele num: 16124
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.88e-1

FS
type: SiteQuality
SIO_000300: 3.31e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.58e-1

DP
type: SiteQuality
SIO_000300: 1.658804e6

BaseQRankSum
type: SiteQuality
SIO_000300: 8.93e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.88e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

QD
type: SiteQuality
SIO_000300: 1.009e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.93e-1

GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 7914
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6318
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 9.626492106276473e-5
allele num: 10388
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14986
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59968
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

QD
type: SiteQuality
SIO_000300: 8.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.89e0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.926e0

DP
type: SiteQuality
SIO_000300: 1.308667e6

MQ
type: SiteQuality
SIO_000300: 5.849e1

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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 1

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7922
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10428
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60104
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15026
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9820
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -5.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.17e-1

QD
type: SiteQuality
SIO_000300: 1.957e1

VQSLOD
type: SiteQuality
SIO_000300: -1.681e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.326438e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.44e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 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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variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15050
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10444
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.320824892903397e-5
allele num: 60226
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7940
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9832
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6334
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.36e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.55e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.53e0

QD
type: SiteQuality
SIO_000300: 8.220000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -1.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.32e-1

DP
type: SiteQuality
SIO_000300: 1.347374e6

GenotypeQuality
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bin: 7.5e0
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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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9830
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10444
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15056
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7948
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.981733643307871e-5
allele num: 60220
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6332
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -1.475e0

FS
type: SiteQuality
SIO_000300: 1.578e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.228e0

MQRankSum
type: SiteQuality
SIO_000300: -5.37e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.132e1

DP
type: SiteQuality
SIO_000300: 1.356699e6

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

GenotypeQuality
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bin: 3.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9840
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 60342
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7972
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6338
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.6578073089701e-4
allele num: 15050
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10454
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.087e0

QD
type: SiteQuality
SIO_000300: 1.406e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.19e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.96e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

DP
type: SiteQuality
SIO_000300: 1.374162e6

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
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bin: 2.5e0
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10004
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10722
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.541933795629989e-5
allele num: 15286
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 852
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61782
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 8.051e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.69e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -6.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

QD
type: SiteQuality
SIO_000300: 1.038e1

VQSLOD
type: SiteQuality
SIO_000300: -4.692e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.01e0

MQ
type: SiteQuality
SIO_000300: 5.983e1

DP
type: SiteQuality
SIO_000300: 1.455671e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 775
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

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

African
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: 8354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10920
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.588209135378947e-5
allele num: 62964
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 15440
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.498369e6

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -5.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.6e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.895e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.6e-2

GenotypeQuality
all individuals: 160
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1020
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 341
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2469
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44381
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 252
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 529
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 477
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 778
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3909
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 786
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 182
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.180080245456691e-4
allele num: 8474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10208
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11106
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64060
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.530568e6

QD
type: SiteQuality
SIO_000300: 1.009e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.45e0

FS
type: SiteQuality
SIO_000300: 1.129e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.168e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.32e-1

GenotypeQuality
all individuals: 3981
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 475
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1204
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 416
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1963
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3419
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 45313
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 252
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1053
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 2.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10256
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.342762907522517e-5
allele num: 15766
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64690
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 2.34e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.1e-1

DP
type: SiteQuality
SIO_000300: 1.548896e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.92e-1

QD
type: SiteQuality
SIO_000300: 1.62e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.320000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.88e-1

GenotypeQuality
all individuals: 378
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 304
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4013
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 367
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 251
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 116
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 231
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 242
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 441
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539598472718315e-5
allele num: 64952
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10274
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15856
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.125e0

MQRankSum
type: SiteQuality
SIO_000300: 2.38e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.024e0

VQSLOD
type: SiteQuality
SIO_000300: 8.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

MQ
type: SiteQuality
SIO_000300: 5.933e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.204e0

QD
type: SiteQuality
SIO_000300: 1.223e1

DP
type: SiteQuality
SIO_000300: 1.555393e6

GenotypeQuality
all individuals: 324
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 218
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46072
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 788
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1689
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 262
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1217
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3419
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 111
bin: 4.25e1
variant carriers: 0