7-92147359-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147359
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147359
    reference: chr 7
allele count: 534
allele frequency: 4.428448218669143e-3
allele num: 120584
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+4057C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.512-3C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.473-3C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.473-3C>T
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6401
  bin: 4.25e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 3018
  bin: 5.25e1
  variant carriers: 68
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 6.75e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 551
  bin: 7.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 8.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 8326
  bin: 3.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 8594
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 1.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 6.25e1
  variant carriers: 61
genotype depth: GenotypeDepth
  all individuals: 1878
  bin: 5.75e1
  variant carriers: 65
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1101
  bin: 9.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 632
  bin: 7.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10722
  bin: 3.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 10701
  bin: 2.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 4547
  bin: 4.75e1
  variant carriers: 70
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4200
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4732
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3146
  bin: 9.25e1
  variant carriers: 0
hgvs: c.473-3C>T
num of homozygotes: 4
population: Latino
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

7-92147360-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147360
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147360
    reference: chr 7
allele count: 1
allele frequency: 8.292148993333113e-6
allele num: 120596
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+4056A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.473-4A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.512-4A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.473-4A>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8601
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1179
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10722
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 371
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 286
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1853
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8357
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 542
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 58
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3006
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6447
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 320
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 859
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4560
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3186
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2527
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3998
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14546
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4232
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4748
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
hgvs: c.473-4A>G
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum

7-92147374-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147374
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147374
    reference: chr 7
allele count: 6348
allele frequency: 5.25923348411791e-2
allele num: 120702
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.512-18G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.473-18G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+4042G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.473-18G>A
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10035
  bin: 2.75e1
  variant carriers: 185
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 5.25e1
  variant carriers: 713
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 8017
  bin: 3.75e1
  variant carriers: 526
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 5.75e1
  variant carriers: 653
genotype depth: GenotypeDepth
  all individuals: 438
  bin: 8.75e1
  variant carriers: 101
genotype depth: GenotypeDepth
  all individuals: 8029
  bin: 2.25e1
  variant carriers: 88
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 6.25e1
  variant carriers: 475
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.75e1
  variant carriers: 185
genotype depth: GenotypeDepth
  all individuals: 6349
  bin: 4.25e1
  variant carriers: 658
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 7.25e1
  variant carriers: 252
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 1.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 10094
  bin: 3.25e1
  variant carriers: 313
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 9.25e1
  variant carriers: 75
genotype depth: GenotypeDepth
  all individuals: 1149
  bin: 6.75e1
  variant carriers: 363
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 9.75e1
  variant carriers: 285
genotype depth: GenotypeDepth
  all individuals: 561
  bin: 8.25e1
  variant carriers: 138
genotype depth: GenotypeDepth
  all individuals: 4751
  bin: 4.75e1
  variant carriers: 769
genotype quality: GenotypeQuality
  all individuals: 4317
  bin: 7.75e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 2273
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 13309
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 5.25e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 6002
  bin: 6.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 2.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 3654
  bin: 7.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 4.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23226
  bin: 9.75e1
  variant carriers: 5730
num of homozygotes: 524
population: Other
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQ

7-92147376-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147376
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147376
    reference: chr 7
allele count: 1
allele frequency: 8.281985026171072e-6
allele num: 120744
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.512-20G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.473-20G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.473-20G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+4040G>A
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10442
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8290
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6537
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4796
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13425
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3836
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21114
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 167
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4153
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum

7-92147381-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147381
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147381
    reference: chr 7
allele count: 1
allele frequency: 8.273899157717065e-6
allele num: 120862
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.473-25C>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+4035C>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.473-25C>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.512-25C>A
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10436
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8158
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10266
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6534
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8296
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6298
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4638
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3839
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21114
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13803
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

7-92147386-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147386
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147386
    reference: chr 7
allele count: 1
allele frequency: 8.267879288962381e-6
allele num: 120950
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+4030G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.473-30G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.512-30G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.473-30G>A
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 10447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8200
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6539
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4651
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 134
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6312
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2512
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13796
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

7-92147388-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147388
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147388
    reference: chr 7
allele count: 3
allele frequency: 2.48003571251426e-5
allele num: 120966
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+4028A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.512-32A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.473-32A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.473-32A>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10241
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6538
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10447
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8237
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3849
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4656
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4175
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genotype quality: GenotypeQuality
  all individuals: 21118
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  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 86
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6323
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: DP

http://identifiers.org/exac.variant/7-92147390-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147390
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147390
    reference: chr 7
allele count: 1
allele frequency: 8.266102367411717e-6
allele num: 120976
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.473-34G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.473-34G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.512-34G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+4026G>T
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6543
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8247
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10238
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10451
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1244
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 965
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8301
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6306
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 77
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genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3850
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genotype quality: GenotypeQuality
  all individuals: 13779
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 110
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genotype quality: GenotypeQuality
  all individuals: 4655
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21117
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: QD

7-92147391-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147391
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147391
    reference: chr 7
allele count: 47
allele frequency: 3.884104920417169e-4
allele num: 121006
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.473-35T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.512-35T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.473-35T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+4025T>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 971
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 6.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10243
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10444
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3237
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6541
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8260
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8294
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1248
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 129
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3850
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2514
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4179
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4664
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6321
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13818
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3222
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ

7-92147400-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147400
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147400
    reference: chr 7
allele count: 10
allele frequency: 8.261185645363822e-5
allele num: 121048
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.473-44A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+4016A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.473-44A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.512-44A>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8324
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8299
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2046
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4797
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10458
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10235
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6545
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3238
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 687
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4184
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3868
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13738
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21138
  bin: 9.75e1
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 2522
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3223
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

7-92147402-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147402
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147402
    reference: chr 7
allele count: 1
allele frequency: 8.259684480052863e-6
allele num: 121070
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+4014C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.473-46C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.512-46C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.473-46C>T
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6547
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8335
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8306
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 184
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10239
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 287
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3239
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2045
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 967
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 688
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4182
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4674
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13806
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21137
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3866
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3224
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

7-92147408-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147408
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147408
    reference: chr 7
allele count: 19
allele frequency: 1.568251976822886e-4
allele num: 121154
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+4008T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.511+47T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.472+47T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.472+47T>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10256
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2048
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 508
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8308
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6551
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 689
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1246
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4801
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10486
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 969
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3241
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1348
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4199
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3873
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6336
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4694
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum

7-92147409-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147409
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147409
    reference: chr 7
allele count: 183
allele frequency: 1.510499207606973e-3
allele num: 121152
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+4007T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.511+46T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.472+46T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.472+46T>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 1264
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 6558
  bin: 4.25e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8289
  bin: 3.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 3253
  bin: 5.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10239
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 10456
  bin: 3.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 9.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 4.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 975
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 8380
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 5.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13907
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3860
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4682
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21283
  bin: 9.75e1
  variant carriers: 182
num of homozygotes: 1
population: African
population: East Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: DP

7-92147417-G-GTGTAGAAT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147417
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147425
    reference: chr 7
allele count: 3
allele frequency: 2.474798303938229e-5
allele num: 121222
alternate allele: GTGTAGAAT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8418
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10279
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8316
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10492
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4805
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6557
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 5.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4694
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21239
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3870
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6343
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ

7-92147429-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147429
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147429
    reference: chr 7
allele count: 2
allele frequency: 1.649103712132456e-5
allele num: 121278
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.472+26T>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.472+26T>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3987T>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.511+26T>A
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 972
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10344
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10526
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8317
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4732
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14142
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3875
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21246
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6390
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2536
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum

7-92147430-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147430
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147430
    reference: chr 7
allele count: 3
allele frequency: 2.473818751546137e-5
allele num: 121270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3986G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.511+25G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.472+25G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.472+25G>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8320
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10342
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3256
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1262
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21244
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4733
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 36
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 52
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4230
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3875
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3235
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
reference allele: C
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum

7-92147443-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147443
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147443
    reference: chr 7
allele count: 1
allele frequency: 8.243207596940122e-6
allele num: 121312
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.511+12T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3973T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.472+12T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.472+12T>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8439
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10564
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10393
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4808
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4749
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4241
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6423
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3886
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21250
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS

http://identifiers.org/exac.variant/7-92147454-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147454
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147454
    reference: chr 7
allele count: 1
allele frequency: 8.241169586787756e-6
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3962G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.472+1G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.511+1G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.472+1G>T
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2055
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10397
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10583
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3238
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4749
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21252
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3885
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4240
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2543
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
hgvs: c.472+1G>T
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: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/7-92147455-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147455
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147455
    reference: chr 7
allele count: 1
allele frequency: 8.241033755274261e-6
allele num: 121344
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.511G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3961G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.472G>T
  hgvsp: ENSP00000248633.4:p.Val158Phe
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.472G>T
  hgvsp: ENSP00000394413.1:p.Val158Phe
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6571
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8456
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2056
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1263
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 511
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2542
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4749
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21252
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4240
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val158Phe
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

7-92147459-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147459
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147459
    reference: chr 7
allele count: 71
allele frequency: 5.850748236535039e-4
allele num: 121352
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.468A>G
  hgvsp: ENST00000428214.1:c.468A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.468A>G
  hgvsp: ENST00000248633.4:c.468A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3957A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.507A>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6560
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 407
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1360
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 5.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 6.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1303
  bin: 9.75e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14278
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3235
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3881
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21285
  bin: 9.75e1
  variant carriers: 71
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4235
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gln156Gln
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

7-92147469-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147469
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147469
    reference: chr 7
allele count: 1
allele frequency: 8.239811473113496e-6
allele num: 121362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.497T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.458T>C
  hgvsp: ENSP00000248633.4:p.Ile153Thr
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.458T>C
  hgvsp: ENSP00000394413.1:p.Ile153Thr
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3947T>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10412
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6424
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4241
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4755
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3880
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ile153Thr
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

7-92147474-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147474
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147474
    reference: chr 7
allele count: 2
allele frequency: 1.647962294622699e-5
allele num: 121362
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.453G>A
  hgvsp: ENST00000248633.4:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.492G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.453G>A
  hgvsp: ENST00000428214.1:c.453G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3942G>A
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10415
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8338
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8457
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3259
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2054
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10578
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6425
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4240
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21274
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4751
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr151Thr
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

7-92147475-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147475
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147475
    reference: chr 7
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.452C>T
  hgvsp: ENSP00000394413.1:p.Thr151Met
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.452C>T
  hgvsp: ENSP00000248633.4:p.Thr151Met
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3941C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.491C>T
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14304
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3881
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6424
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21276
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4749
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Thr151Met
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

7-92147475-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147475
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147475
    reference: chr 7
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.491C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.452C>G
  hgvsp: ENSP00000248633.4:p.Thr151Arg
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.452C>G
  hgvsp: ENSP00000394413.1:p.Thr151Arg
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3941C>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 977
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3258
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10417
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8462
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8337
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6424
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 21276
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  variant carriers: 2
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 4749
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3881
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4240
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr151Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: Latino
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

7-92147481-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147481
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147481
    reference: chr 7
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.446A>G
  hgvsp: ENSP00000248633.4:p.Gln149Arg
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.446A>G
  hgvsp: ENSP00000394413.1:p.Gln149Arg
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3935A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.485A>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 978
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8466
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4239
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14308
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4750
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6427
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21277
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln149Arg
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

7-92147487-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147487
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147487
    reference: chr 7
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.479T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.440T>C
  hgvsp: ENSP00000248633.4:p.Val147Ala
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3929T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.440T>C
  hgvsp: ENSP00000394413.1:p.Val147Ala
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8461
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10575
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4752
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3881
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4239
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 6426
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3236
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14305
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Val147Ala
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-92147511-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147511
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147511
    reference: chr 7
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.455C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3905C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.416C>T
  hgvsp: ENSP00000394413.1:p.Pro139Leu
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.416C>T
  hgvsp: ENSP00000248633.4:p.Pro139Leu
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10419
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8335
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8459
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4807
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10573
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21279
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3881
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4751
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro139Leu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: QD

7-92147514-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147514
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147514
    reference: chr 7
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.452T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.413T>C
  hgvsp: ENSP00000248633.4:p.Phe138Ser
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3902T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.413T>C
  hgvsp: ENSP00000394413.1:p.Phe138Ser
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2053
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8452
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3260
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3881
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14300
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6425
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21279
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4750
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Phe138Ser
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

7-92147516-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147516
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147516
    reference: chr 7
allele count: 1
allele frequency: 8.239132584121543e-6
allele num: 121372
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3900T>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.411T>A
  hgvsp: ENST00000428214.1:c.411T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.411T>A
  hgvsp: ENST00000248633.4:c.411T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.450T>A
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10423
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10571
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14291
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4750
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6426
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3880
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4236
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Val137Val
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD

7-92147523-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147523
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147523
    reference: chr 7
allele count: 1
allele frequency: 8.239404126293587e-6
allele num: 121368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.443G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.404G>A
  hgvsp: ENSP00000248633.4:p.Arg135Gln
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.404G>A
  hgvsp: ENSP00000394413.1:p.Arg135Gln
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3893G>A
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8337
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10425
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 696
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1363
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4235
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21280
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4750
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3880
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Arg135Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

7-92147534-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147534
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147534
    reference: chr 7
allele count: 2
allele frequency: 1.647935137272997e-5
allele num: 121364
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.432A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3882A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.393A>G
  hgvsp: ENST00000428214.1:c.393A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.393A>G
  hgvsp: ENST00000248633.4:c.393A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 979
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6568
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8424
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1364
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10574
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10414
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2051
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3261
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4806
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8336
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3878
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4234
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21280
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4751
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genotype quality: GenotypeQuality
  all individuals: 3237
  bin: 9.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 14253
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Leu131Leu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

7-92147564-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147564
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147564
    reference: chr 7
allele count: 2
allele frequency: 1.648342591524222e-5
allele num: 121334
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.363G>A
  hgvsp: ENST00000428214.1:c.363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3852G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.402G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.363G>A
  hgvsp: ENST00000248633.4:c.363G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8314
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6576
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8333
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3264
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1365
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10567
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4810
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2052
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 980
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10340
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14039
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6403
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genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 7.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2539
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21293
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Leu121Leu
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: C
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: QD

http://identifiers.org/exac.variant/7-92147580-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147580
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147580
    reference: chr 7
allele count: 1
allele frequency: 8.245382585751979e-6
allele num: 121280
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3836G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.358-11G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.397-11G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.358-11G>T
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9905
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7881
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8010
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9564
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5814
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24020
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12332
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3029
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum

7-92147580-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147580
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147580
    reference: chr 7
allele count: 4339
allele frequency: 3.577671503957783e-2
allele num: 121280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.358-11G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.358-11G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.397-11G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3836G>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2311
  bin: 5.75e1
  variant carriers: 410
genotype depth: GenotypeDepth
  all individuals: 9564
  bin: 2.75e1
  variant carriers: 86
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 9.25e1
  variant carriers: 95
genotype depth: GenotypeDepth
  all individuals: 735
  bin: 7.75e1
  variant carriers: 176
genotype depth: GenotypeDepth
  all individuals: 4927
  bin: 4.75e1
  variant carriers: 420
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 8.75e1
  variant carriers: 108
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 1.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 9905
  bin: 3.25e1
  variant carriers: 172
genotype depth: GenotypeDepth
  all individuals: 8010
  bin: 3.75e1
  variant carriers: 277
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 1.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 6.25e1
  variant carriers: 333
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 8.25e1
  variant carriers: 137
genotype depth: GenotypeDepth
  all individuals: 3424
  bin: 5.25e1
  variant carriers: 391
genotype depth: GenotypeDepth
  all individuals: 6451
  bin: 4.25e1
  variant carriers: 337
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 6.75e1
  variant carriers: 281
genotype depth: GenotypeDepth
  all individuals: 851
  bin: 7.25e1
  variant carriers: 224
genotype depth: GenotypeDepth
  all individuals: 7881
  bin: 2.25e1
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 1933
  bin: 9.75e1
  variant carriers: 751
genotype quality: GenotypeQuality
  all individuals: 3554
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12332
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5814
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3913
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24020
  bin: 9.75e1
  variant carriers: 4251
num of homozygotes: 85
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: European (Finnish)
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS

7-92147582-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147582
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147582
    reference: chr 7
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.358-13C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.358-13C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3834C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.397-13C>T
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8079
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6506
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10036
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9740
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3395
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 255
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2258
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1571
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4936
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 421
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1118
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1767
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 705
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4582
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4090
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 439
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 310
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3611
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3226
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22865
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 12482
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP

7-92147584-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147584
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147584
    reference: chr 7
allele count: 106623
allele frequency: 8.792634252539913e-1
allele num: 121264
alternate allele: T
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.358-15G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.358-15G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.397-15G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3832G>A
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 4.25e1
  variant carriers: 6203
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1803
  bin: 7.75e1
  variant carriers: 1798
genotype depth: GenotypeDepth
  all individuals: 3705
  bin: 3.25e1
  variant carriers: 3489
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 7.25e1
  variant carriers: 2337
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 7.5e0
  variant carriers: 42
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 6.75e1
  variant carriers: 3060
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 9.25e1
  variant carriers: 1205
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 96
genotype depth: GenotypeDepth
  all individuals: 1000
  bin: 2.25e1
  variant carriers: 862
genotype depth: GenotypeDepth
  all individuals: 6275
  bin: 5.25e1
  variant carriers: 6235
genotype depth: GenotypeDepth
  all individuals: 2250
  bin: 2.75e1
  variant carriers: 1970
genotype depth: GenotypeDepth
  all individuals: 5066
  bin: 3.75e1
  variant carriers: 4980
genotype depth: GenotypeDepth
  all individuals: 8254
  bin: 9.75e1
  variant carriers: 8214
genotype depth: GenotypeDepth
  all individuals: 298
  bin: 1.75e1
  variant carriers: 294
genotype depth: GenotypeDepth
  all individuals: 1362
  bin: 8.75e1
  variant carriers: 1359
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 6.25e1
  variant carriers: 4116
genotype depth: GenotypeDepth
  all individuals: 1513
  bin: 8.25e1
  variant carriers: 1501
genotype depth: GenotypeDepth
  all individuals: 5322
  bin: 5.75e1
  variant carriers: 5290
genotype depth: GenotypeDepth
  all individuals: 6666
  bin: 4.75e1
  variant carriers: 6638
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 2.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 710
  bin: 8.25e1
  variant carriers: 664
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 129
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.25e1
  variant carriers: 29
genotype quality: GenotypeQuality
  all individuals: 422
  bin: 6.75e1
  variant carriers: 293
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 16
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 9.25e1
  variant carriers: 988
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 4.75e1
  variant carriers: 82
genotype quality: GenotypeQuality
  all individuals: 467
  bin: 8.75e1
  variant carriers: 447
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.25e1
  variant carriers: 25
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 7.25e1
  variant carriers: 225
genotype quality: GenotypeQuality
  all individuals: 589
  bin: 7.75e1
  variant carriers: 528
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 5
num of homozygotes: 46990
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD

7-92147595-A-ATGTTGCTTTGGAGAAAGTAGC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147595
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147616
    reference: chr 7
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: ATGTTGCTTTGGAGAAAGTAGC
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18180
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3627
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25522
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1122
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12169
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7360
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

7-92147595-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147595
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147595
    reference: chr 7
allele count: 1
allele frequency: 8.284866862189524e-6
allele num: 120702
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3821T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.358-26T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.358-26T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.397-26T>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 3334
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2247
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 18180
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1177
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12194
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5785
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2372
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2493
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25522
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7360
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 1757
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 2535
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 12169
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1795
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: African
population: Latino
population: European (Finnish)
reference allele: A
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/7-92147598-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147598
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147598
    reference: chr 7
allele count: 2
allele frequency: 1.657934876318058e-5
allele num: 120632
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.358-29G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.358-29G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.397-29G>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3818G>T
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 1830
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1836
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2663
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11921
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5003
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17524
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3330
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5746
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 168
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 7203
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2457
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 190
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

7-92147605-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147605
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147605
    reference: chr 7
allele count: 3
allele frequency: 2.489915840844579e-5
allele num: 120486
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.397-36G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.358-36G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.358-36G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3811G>A
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10925
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3321
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1444
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1829
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 576
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 443
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5089
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5631
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1750
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3461
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2467
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

7-92147616-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147616
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147616
    reference: chr 7
allele count: 1
allele frequency: 8.389965601141035e-6
allele num: 119190
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.358-47G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.358-47G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3800G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.397-47G>A
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3074
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3491
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4075
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12130
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5404
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ

7-92147616-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147616
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147616
    reference: chr 7
allele count: 2
allele frequency: 1.677993120228207e-5
allele num: 119190
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.358-47G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.358-47G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3800G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.397-47G>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7476
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5445
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 575
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9070
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1820
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10451
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3278
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3107
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8855
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1033
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 816
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2351
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2045
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4075
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2113
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5404
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12130
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2940
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3491
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3074
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1239
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD

7-92147620-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92147620
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92147620
    reference: chr 7
allele count: 1
allele frequency: 8.496754239880366e-6
allele num: 117692
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.358-51T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.397-51T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3796T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.358-51T>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 573
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5234
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 815
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 748
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10258
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1804
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7969
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3214
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7374
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1026
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5044
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2538
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2359
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3560
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1722
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4380
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1721
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1919
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5421
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum

7-92148264-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148264
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148264
    reference: chr 7
allele count: 4
allele frequency: 3.32397081553624e-5
allele num: 120338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.396+10C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3152C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.357+45C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.357+45C>T
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 399
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3865
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9851
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14570
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2256
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3696
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1106
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4767
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 541
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1821
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7829
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1803
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Other
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

7-92148273-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148273
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148273
    reference: chr 7
allele count: 1
allele frequency: 8.295588406085643e-6
allele num: 120546
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.357+36G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3143G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.357+36G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.396+1G>C
  variant of: http://identifiers.org/hgnc/8850
canonical: false
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20401
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1102
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 620
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4762
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1769
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8004
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
hgvs: n.396+1G>C
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD

7-92148277-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148277
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148277
    reference: chr 7
allele count: 1
allele frequency: 8.287063893262618e-6
allele num: 120670
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.357+32T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.357+32T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3139T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.393T>C
  variant of: http://identifiers.org/hgnc/8850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10111
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20638
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17988
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1761
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1774
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39444
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4763
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8069
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

7-92148279-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148279
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148279
    reference: chr 7
allele count: 1
allele frequency: 8.282808203293245e-6
allele num: 120732
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.391T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.357+30T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3137T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.357+30T>C
  variant of: http://identifiers.org/hgnc/8850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10118
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 867
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3706
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18280
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1778
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39906
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 356
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8098
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4762
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

7-92148285-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148285
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148285
    reference: chr 7
allele count: 1
allele frequency: 8.271845945141119e-6
allele num: 120892
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.385A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.357+24A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3131A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.357+24A>G
  variant of: http://identifiers.org/hgnc/8850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18681
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10202
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3708
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20956
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40624
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8146
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4763
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1764
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1079
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD

7-92148287-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148287
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148287
    reference: chr 7
allele count: 1
allele frequency: 8.268562923763849e-6
allele num: 120940
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3129C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.357+22C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.357+22C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.383C>T
  variant of: http://identifiers.org/hgnc/8850
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10240
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18736
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 398
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3711
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21008
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1758
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4762
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: Other
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum

7-92148299-TTTTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148299
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148295
    reference: chr 7
allele count: 2
allele frequency: 1.651009592365732e-5
allele num: 121138
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.357+6_357+9delGAAA
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.367_370delGAAA
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3113_273+3116delGAAA
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.357+6_357+9delGAAA
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18877
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1905
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 145
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21265
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41329
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8213
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
hgvs: c.357+6_357+9delGAAA
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: TTTTC
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: DP

7-92148303-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148303
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148302
    reference: chr 7
allele count: 1
allele frequency: 8.253276550790664e-6
allele num: 121164
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.366delA
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3112delA
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.357+5delA
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.357+5delA
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10318
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18884
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3717
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21312
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8220
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4760
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1786
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41393
  bin: 6.25e1
  variant carriers: 0
hgvs: c.357+5delA
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Other
reference allele: CT
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD

7-92148304-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148304
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148304
    reference: chr 7
allele count: 1
allele frequency: 8.252595441266279e-6
allele num: 121174
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.357+5A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.366A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3112A>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.357+5A>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21308
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18909
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1344
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10317
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1073
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 810
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1770
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41415
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4760
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 8.75e1
  variant carriers: 0
hgvs: c.357+5A>C
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: T
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-92148336-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148336
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148336
    reference: chr 7
allele count: 267
allele frequency: 2.201916574576523e-3
allele num: 121258
alternate allele: C
annotation: Annotation
  canonical: true
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.330C>G
  hgvsp: ENST00000248633.4:c.330C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.334C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3080C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  clinical significance: benign
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.330C>G
  hgvsp: ENST00000428214.1:c.330C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21371
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1343
  bin: 4.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 9.75e1
  variant carriers: 97
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 9.25e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 18774
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1897
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 10325
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 8.25e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 8.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 449
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 3707
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 182
  bin: 7.25e1
  variant carriers: 18
genotype quality: GenotypeQuality
  all individuals: 1748
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41499
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8241
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4938
  bin: 9.75e1
  variant carriers: 265
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Pro110Pro
num of homozygotes: 2
population: Latino
population: Other
population: African
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: DP

7-92148348-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148348
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148348
    reference: chr 7
allele count: 2
allele frequency: 1.649402916144356e-5
allele num: 121256
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3068T>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.322T>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.318T>A
  hgvsp: ENST00000428214.1:c.318T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.318T>A
  hgvsp: ENST00000248633.4:c.318T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18760
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21490
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10382
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1759
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4699
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41634
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8301
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Val106Val
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum

7-92148350-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148350
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148350
    reference: chr 7
allele count: 1
allele frequency: 8.24715060946443e-6
allele num: 121254
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.316G>A
  hgvsp: ENSP00000248633.4:p.Val106Ile
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.316G>A
  hgvsp: ENSP00000394413.1:p.Val106Ile
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.320G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3066G>A
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3743
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21491
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1342
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10382
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18746
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 491
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41629
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Val106Ile
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

7-92148357-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148357
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148357
    reference: chr 7
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.309T>C
  hgvsp: ENST00000428214.1:c.309T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3059T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.309T>C
  hgvsp: ENST00000248633.4:c.309T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.313T>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21478
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18659
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3742
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
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genotype depth: GenotypeDepth
  all individuals: 616
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genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 19
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  variant carriers: 0
hgvs: p.Cys103Cys
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-92148358-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148358
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148358
    reference: chr 7
allele count: 2
allele frequency: 1.650083329208125e-5
allele num: 121206
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.308G>A
  hgvsp: ENSP00000248633.4:p.Cys103Tyr
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.312G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3058G>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.308G>A
  hgvsp: ENSP00000394413.1:p.Cys103Tyr
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3745
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 430
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 22
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1049
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Cys103Tyr
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
reference allele: C
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD

7-92148361-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148361
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148361
    reference: chr 7
allele count: 2
allele frequency: 1.650355651642929e-5
allele num: 121186
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.309C>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.305C>A
  hgvsp: ENSP00000394413.1:p.Ser102Tyr
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3055C>A
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.305C>A
  hgvsp: ENSP00000248633.4:p.Ser102Tyr
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10375
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18632
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21476
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41523
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4693
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1780
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser102Tyr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

7-92148362-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148362
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148362
    reference: chr 7
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.304T>C
  hgvsp: ENSP00000248633.4:p.Ser102Pro
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.304T>C
  hgvsp: ENSP00000394413.1:p.Ser102Pro
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3054T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.308T>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10373
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21477
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1900
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4693
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8283
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1745
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41533
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1046
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1779
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser102Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: A
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-92148364-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148364
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148363
    reference: chr 7
allele count: 1
allele frequency: 8.25300409349003e-6
allele num: 121168
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.301delG
  hgvsp: ENSP00000248633.4:p.Val101TyrfsTer31
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.305delG
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3051delG
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.301delG
  hgvsp: ENSP00000394413.1:p.Val101TyrfsTer31
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3740
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10371
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1901
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1776
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 3
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4693
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 14
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genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 801
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1043
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Val101TyrfsTer31
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: AC
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff

7-92148371-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148371
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148371
    reference: chr 7
allele count: 1
allele frequency: 8.259275166011431e-6
allele num: 121076
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.299C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.295C>T
  hgvsp: ENSP00000248633.4:p.His99Tyr
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3045C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.295C>T
  hgvsp: ENSP00000394413.1:p.His99Tyr
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3738
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1903
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21427
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1766
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41363
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 799
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8252
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1734
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 2.75e1
  variant carriers: 0
hgvs: p.His99Tyr
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

7-92148373-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148373
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148373
    reference: chr 7
allele count: 9
allele frequency: 7.435681356268279e-5
allele num: 121038
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.297C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3043C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.293C>T
  hgvsp: ENSP00000394413.1:p.Ser98Phe
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.293C>T
  hgvsp: ENSP00000248633.4:p.Ser98Phe
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 21405
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3733
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 10351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1038
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41308
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4696
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 1735
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8253
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ser98Phe
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

7-92148380-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148380
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148380
    reference: chr 7
allele count: 1
allele frequency: 8.280887711162637e-6
allele num: 120760
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.286C>T
  hgvsp: ENSP00000248633.4:p.Pro96Ser
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.286C>T
  hgvsp: ENSP00000394413.1:p.Pro96Ser
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3036C>T
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.290C>T
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18249
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10307
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3728
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21258
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 1729
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1036
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1756
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4688
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 40912
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8210
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro96Ser
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: South Asian
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-92148384-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148384
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148384
    reference: chr 7
allele count: 2
allele frequency: 1.661350345560872e-5
allele num: 120384
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.282C>G
  hgvsp: ENST00000248633.4:c.282C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.286C>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.282C>G
  hgvsp: ENST00000428214.1:c.282C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3032C>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21152
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 402
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1902
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 931
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 430
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3716
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18088
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 616
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10233
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1752
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Leu94Leu
num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

7-92148394-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148394
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148394
    reference: chr 7
allele count: 2
allele frequency: 1.701085292416562e-5
allele num: 117572
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.274-2A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.274-2A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3022A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.278-2A>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20322
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 895
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 771
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 422
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genotype quality: GenotypeQuality
  all individuals: 3597
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1609
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genotype quality: GenotypeQuality
  all individuals: 4642
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 987
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
hgvs: c.274-2A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-92148397-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148397
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148397
    reference: chr 7
allele count: 1
allele frequency: 8.608667206143144e-6
allele num: 116162
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.274-5T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3019T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.274-5T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.278-5T>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14208
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9643
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1075
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1288
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19705
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2077
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4005
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1815
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3552
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7087
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35532
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4642
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 727
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 663
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
hgvs: c.274-5T>C
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-92148402-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148402
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148402
    reference: chr 7
allele count: 1
allele frequency: 8.674682072902028e-6
allele num: 115278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.278-10T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.274-10T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.274-10T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3014T>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 19428
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 418
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1274
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1785
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1283
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9404
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2454
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3457
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13427
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4789
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6538
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4641
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34586
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1479
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genotype quality: GenotypeQuality
  all individuals: 40
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genotype quality: GenotypeQuality
  all individuals: 876
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genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-92148414-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148414
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148414
    reference: chr 7
allele count: 1
allele frequency: 9.358388859773901e-6
allele num: 106856
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.278-22T>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3002T>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.274-22T>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.274-22T>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13387
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16003
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16529
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum

7-92148414-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148414
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148414
    reference: chr 7
allele count: 1
allele frequency: 9.358388859773901e-6
allele num: 106856
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.274-22T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+3002T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.274-22T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.278-22T>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1481
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5821
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2211
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1650
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5193
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6947
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16003
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13387
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20650
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3129
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1455
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 948
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 485
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 944
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4634
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2845
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3087
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQ
site quality: ReadPosRankSum

7-92148423-T-TA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148423
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148424
    reference: chr 7
allele count: 1
allele frequency: 9.749819628336875e-6
allele num: 102566
alternate allele: TA
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+2992dupT
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.274-32dupT
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.278-32dupT
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.274-32dupT
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: VQSRTrancheINDEL96.00to97.00
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5099
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6663
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1826
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9648
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3817
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6189
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2595
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 771
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 535
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5097
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17507
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 744
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4629
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14578
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-92157678-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92157678
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92157678
    reference: chr 7
allele count: 1
allele frequency: 3.3665499596014e-5
allele num: 29704
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.72T>C
  hgvsp: ENST00000428214.1:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.72T>C
  hgvsp: ENST00000438045.1:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.76T>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.72T>C
  hgvsp: ENST00000248633.4:c.72T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3575
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33704
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4883
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 850
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 194
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10712
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10329
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1198
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7035
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1807
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32676
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 490
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala24Ala
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: DP
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/7-92148424-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148424
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148424
    reference: chr 7
allele count: 3
allele frequency: 2.92243848266994e-5
allele num: 102654
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.278-32T>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.274-32T>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.274-32T>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+2992T>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1212
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6627
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3773
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19183
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9646
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5118
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2611
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1423
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1931
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17618
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 548
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 866
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3867
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5098
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4630
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 523
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 408
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2876
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 742
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum

7-92148436-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148436
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148436
    reference: chr 7
allele count: 1
allele frequency: 1.070022256462934e-5
allele num: 93456
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.278-44G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.274-44G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+2980G>C
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.274-44G>C
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3620
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1409
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1699
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3397
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2179
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 869
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12687
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1930
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5053
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1994
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5695
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 791
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5065
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 736
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4477
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2124
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4627
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 821
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

7-92148444-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92148444
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92148444
    reference: chr 7
allele count: 1
allele frequency: 1.159124629080119e-5
allele num: 86272
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.278-52A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+2972A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.274-52A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.274-52A>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6130
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2602
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15565
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 417
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1198
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3547
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1705
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11366
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1384
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2736
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8959
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4365
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2196
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7155
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5832
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3374
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5568
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2390
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4625
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1042
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 787
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4648
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 720
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1331
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: MQ

7-92151370-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 92151370
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 92151370
    reference: chr 7
allele count: 1
allele frequency: 8.244702778464837e-6
allele num: 121290
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000248633
  ensembl transcript: ENST00000248633
  gene symbol: PEX1
  hgvsc: ENST00000248633.4:c.273+46A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000394413
  ensembl transcript: ENST00000428214
  gene symbol: PEX1
  hgvsc: ENST00000428214.1:c.273+46A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl transcript: ENST00000484913
  gene symbol: PEX1
  hgvsc: ENST00000484913.1:n.277+46A>G
  variant of: http://identifiers.org/hgnc/8850
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000127980
  ensembl protein: ENSP00000410438
  ensembl transcript: ENST00000438045
  gene symbol: PEX1
  hgvsc: ENST00000438045.1:c.273+46A>G
  variant of: http://identifiers.org/hgnc/8850
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7895
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5341
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1154
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13551
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 738
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1953
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10517
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2152
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 723
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 534
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3396
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11158
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5334
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3228
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15544
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17163
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4895
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
num of homozygotes: 0
reference allele: T

GenotypeQuality
all individuals: 19923
bin: 9.75e1
variant carriers: 530

GenotypeQuality
all individuals: 3972
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6525
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 14523
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 264
allele frequency: 2.286506149315781e-2
allele num: 11546
num of homozygotes: 4

European (Finnish)
type: Population
allele count: 4
allele frequency: 6.047777441790142e-4
allele num: 6614
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.31858407079646e-3
allele num: 904
num of homozygotes: 0

South Asian
type: Population
allele count: 65
allele frequency: 3.938439166262724e-3
allele num: 16504
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.312138728323699e-4
allele num: 8650
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.105006105006105e-4
allele num: 9828
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 190
allele frequency: 2.855511136493432e-3
allele num: 66538
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.23e0

DP
type: SiteQuality
SIO_000300: 2.336267e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.123e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.3e-2

MQ
type: SiteQuality
SIO_000300: 5.967e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.37e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.45e-1

QD
type: SiteQuality
SIO_000300: 1.301e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

GenotypeQuality
all individuals: 19731
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6564
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 79
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.25e1
variant carriers: 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: 9834
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502674761074713e-5
allele num: 66548
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 8.81e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.24e-1

FS
type: SiteQuality
SIO_000300: 3.235e0

MQ
type: SiteQuality
SIO_000300: 5.927e1

QD
type: SiteQuality
SIO_000300: 1.435e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.404e0

DP
type: SiteQuality
SIO_000300: 2.331582e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.32e-1

GenotypeQuality
all individuals: 2860
bin: 9.25e1
variant carriers: 18

GenotypeQuality
all individuals: 3811
bin: 8.25e1
variant carriers: 14

GenotypeQuality
all individuals: 96
bin: 4.25e1
variant carriers: 2

Other
type: Population
allele count: 33
allele frequency: 3.650442477876106e-2
allele num: 904
num of homozygotes: 2

Latino
type: Population
allele count: 1802
allele frequency: 1.563150589868147e-1
allele num: 11528
num of homozygotes: 168

African
type: Population
allele count: 170
allele frequency: 1.706142111601766e-2
allele num: 9964
num of homozygotes: 0

East Asian
type: Population
allele count: 2267
allele frequency: 2.627491886879926e-1
allele num: 8628
num of homozygotes: 310

European (Finnish)
type: Population
allele count: 30
allele frequency: 4.537205081669692e-3
allele num: 6612
num of homozygotes: 0

South Asian
type: Population
allele count: 555
allele frequency: 3.36282113427048e-2
allele num: 16504
num of homozygotes: 18

European (Non-Finnish)
type: Population
allele count: 1491
allele frequency: 2.240016826417475e-2
allele num: 66562
num of homozygotes: 26

MQRankSum
type: SiteQuality
SIO_000300: 7.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 6.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.099e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.0e-1

QD
type: SiteQuality
SIO_000300: 1.503e1

DP
type: SiteQuality
SIO_000300: 2.42645e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.508e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

GenotypeQuality
all individuals: 157
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4627
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6278
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9974
num of homozygotes: 0

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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66562
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

FS
type: SiteQuality
SIO_000300: 1.384e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.13e-1

DP
type: SiteQuality
SIO_000300: 2.387272e6

BaseQRankSum
type: SiteQuality
SIO_000300: -4.279e0

QD
type: SiteQuality
SIO_000300: 1.474e1

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.5e-1

GenotypeQuality
all individuals: 4161
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 134
bin: 3.25e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 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: 16506
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10074
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 9.666e0

VQSLOD
type: SiteQuality
SIO_000300: -7.206e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

QD
type: SiteQuality
SIO_000300: 1.219e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.388577e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.357e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.02e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.5e-1

GenotypeQuality
all individuals: 21114
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3849
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 4.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.863878477017163e-5
allele num: 10138
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66600
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.232e0

QD
type: SiteQuality
SIO_000300: 2.563e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.329e0

VQSLOD
type: SiteQuality
SIO_000300: -2.636e0

MQRankSum
type: SiteQuality
SIO_000300: -4.66e-1

DP
type: SiteQuality
SIO_000300: 2.389593e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 3226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 290
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13799
bin: 6.25e1
variant carriers: 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: 8648
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.969667126255663e-4
allele num: 10154
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.501456412720339e-5
allele num: 66602
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 9.72e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.26e0

FS
type: SiteQuality
SIO_000300: 1.952e0

QD
type: SiteQuality
SIO_000300: 1.39e1

DP
type: SiteQuality
SIO_000300: 2.389847e6

GenotypeQuality
all individuals: 3226
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4177
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66602
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.84251968503937e-5
allele num: 10160
num of homozygotes: 0

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

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.390096e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.925e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.04e-1

MQ
type: SiteQuality
SIO_000300: 5.747e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.643e0

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.085e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 1.419e0

QD
type: SiteQuality
SIO_000300: 1.368e1

GenotypeQuality
all individuals: 91
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21143
bin: 9.75e1
variant carriers: 47

GenotypeQuality
all individuals: 102
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 4.053445428614322e-4
allele num: 66610
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10180
num of homozygotes: 0

Latino
type: Population
allele count: 18
allele frequency: 1.559521746664356e-3
allele num: 11542
num of homozygotes: 0

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

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

Other
type: Population
allele count: 2
allele frequency: 2.207505518763797e-3
allele num: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.3e-2

QD
type: SiteQuality
SIO_000300: 1.424e1

VQSLOD
type: SiteQuality
SIO_000300: 5.8e0

DP
type: SiteQuality
SIO_000300: 2.391091e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.97e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

GenotypeQuality
all individuals: 4674
bin: 7.75e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.501231009427731e-4
allele num: 66612
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10224
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 4.25e0

FS
type: SiteQuality
SIO_000300: 2.45e0

VQSLOD
type: SiteQuality
SIO_000300: 9.429999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.67e-1

QD
type: SiteQuality
SIO_000300: 1.559e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.391918e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.5e-2

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 215
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6315
bin: 6.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10244
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05913717886573e-5
allele num: 16504
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66618
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.16e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.392491e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.48e-1

QD
type: SiteQuality
SIO_000300: 1.176e1

MQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.719e0

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3226
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GenotypeQuality
all individuals: 21159
bin: 9.75e1
variant carriers: 19

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

African
type: Population
allele count: 2
allele frequency: 1.941370607649e-4
allele num: 10302
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 17
allele frequency: 2.55109697169783e-4
allele num: 66638
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -7.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -8.87e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.56e0

QD
type: SiteQuality
SIO_000300: 1.343e1

MQ
type: SiteQuality
SIO_000300: 5.965e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

DP
type: SiteQuality
SIO_000300: 2.394337e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.28e-1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3215
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2516
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 4
allele frequency: 3.880481179666278e-4
allele num: 10308
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 166
allele frequency: 2.491295473646296e-3
allele num: 66632
num of homozygotes: 1

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

Latino
type: Population
allele count: 6
allele frequency: 5.200208008320333e-4
allele num: 11538
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.423361201987156e-4
allele num: 16506
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.81e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.07e-1

QD
type: SiteQuality
SIO_000300: 1.57e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 4.25e0

MQRankSum
type: SiteQuality
SIO_000300: 2.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.17e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.399426e6

GenotypeQuality
all individuals: 57
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4207
bin: 8.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
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: 3
allele frequency: 2.598752598752599e-4
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66662
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.92e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.0e-3

FS
type: SiteQuality
SIO_000300: 2.694e0

QD
type: SiteQuality
SIO_000300: 7.5e0

DP
type: SiteQuality
SIO_000300: 2.399864e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.99e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.72e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.29e0

MQRankSum
type: SiteQuality
SIO_000300: -5.864e0

MQ
type: SiteQuality
SIO_000300: 4.853e1

GenotypeQuality
all individuals: 3236
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4228
bin: 8.25e1
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: 16506
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999400119976005e-5
allele num: 66680
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e0

VQSLOD
type: SiteQuality
SIO_000300: -1.365e0

MQRankSum
type: SiteQuality
SIO_000300: -1.192e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.498e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.63e-1

DP
type: SiteQuality
SIO_000300: 2.402216e6

QD
type: SiteQuality
SIO_000300: 1.624e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.33e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 40
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GenotypeQuality
all individuals: 24
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10376
num of homozygotes: 0

European (Non-Finnish)
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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: 8648
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817520901490367e-4
allele num: 16506
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.6e-3

DP
type: SiteQuality
SIO_000300: 2.40248e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -8.799999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.328e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.99e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

FS
type: SiteQuality
SIO_000300: 9.121e0

MQ
type: SiteQuality
SIO_000300: 5.959e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.76e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11554
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10386
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16506
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.499430216517723e-5
allele num: 66692
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.275e0

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.404245e6

QD
type: SiteQuality
SIO_000300: 1.471e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.75e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.423e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.88e-1

FS
type: SiteQuality
SIO_000300: 7.245e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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bin: 2.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.774e1

DP
type: SiteQuality
SIO_000300: 2.405057e6

VQSLOD
type: SiteQuality
SIO_000300: -5.37e-1

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.975e1

FS
type: SiteQuality
SIO_000300: 7.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.47e0

BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
all individuals: 3239
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10394
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
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66704
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.650519031141868e-5
allele num: 11560
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.61e-1

MQ
type: SiteQuality
SIO_000300: 5.975e1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

African
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allele count: 68
allele frequency: 6.542235905329998e-3
allele num: 10394
num of homozygotes: 0

Latino
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allele count: 2
allele frequency: 1.729804532087874e-4
allele num: 11562
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.409177e6

ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.69e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

MQRankSum
type: SiteQuality
SIO_000300: 1.27e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.28e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.86e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.13e0

QD
type: SiteQuality
SIO_000300: 1.588e1

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

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

European (Finnish)
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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: 11568
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.164e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.81e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.51e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.381e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.99e0

QD
type: SiteQuality
SIO_000300: 1.928e1

MQRankSum
type: SiteQuality
SIO_000300: 2.93e-1

DP
type: SiteQuality
SIO_000300: 2.407144e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

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

Latino
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allele count: 0
allele frequency: 0.0e0
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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

South Asian
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allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.81e0

MQ
type: SiteQuality
SIO_000300: 5.95e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.159999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.1e-2

QD
type: SiteQuality
SIO_000300: 1.21e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.40733e6

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: 8654
num of homozygotes: 0

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

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

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.453e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.29e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 1.803e0

MQRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 2.407553e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.33e-1

GenotypeQuality
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variant carriers: 0

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: 66712
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 5.590000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.407553e6

FS
type: SiteQuality
SIO_000300: 1.803e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.87e0

VQSLOD
type: SiteQuality
SIO_000300: 2.07e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.29e-1

QD
type: SiteQuality
SIO_000300: 1.453e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.33e-1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

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

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

Latino
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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: 908
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.89e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.840000000000001e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.251e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.46e-1

FS
type: SiteQuality
SIO_000300: 2.047e0

DP
type: SiteQuality
SIO_000300: 2.407495e6

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 1
allele frequency: 9.617234083477592e-5
allele num: 10398
num of homozygotes: 0

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66718
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 8.169999999999999e-1

QD
type: SiteQuality
SIO_000300: 1.126e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.78e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.407579e6

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.41e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 1.76e-1

GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.71e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.594e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.407539e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.659e0

FS
type: SiteQuality
SIO_000300: 2.672e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.23e0

QD
type: SiteQuality
SIO_000300: 8.25e0

GenotypeQuality
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bin: 2.75e1
variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.5e0
variant carriers: 0

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

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

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66714
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e-2

FS
type: SiteQuality
SIO_000300: 1.947e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e0

VQSLOD
type: SiteQuality
SIO_000300: -2.853e0

MQRankSum
type: SiteQuality
SIO_000300: -6.29e-1

QD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.181e0

DP
type: SiteQuality
SIO_000300: 2.407497e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
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variant carriers: 1

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.498935755613514e-5
allele num: 66714
num of homozygotes: 0

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 8.84e-1

ClippingRankSum
type: SiteQuality
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DP
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 2.138e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

QD
type: SiteQuality
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GenotypeQuality
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bin: 6.25e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

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

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

African
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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: 908
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66710
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.407397e6

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
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FS
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 4.39e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.0e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.56e0

QD
type: SiteQuality
SIO_000300: 1.351e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

Latino
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allele frequency: 0.0e0
allele num: 11568
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 66712
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 frequency: 2.311604253351826e-4
allele num: 8652
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
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allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.04e0

FS
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.407238e6

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

GenotypeQuality
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bin: 9.25e1
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GenotypeQuality
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variant carriers: 0

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10392
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
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allele frequency: 1.730103806228374e-4
allele num: 11560
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
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FS
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.405879e6

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3913
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

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

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

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

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

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

MQ
type: SiteQuality
SIO_000300: 5.971e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.53336e6

VQSLOD
type: SiteQuality
SIO_000300: 6.14e0

QD
type: SiteQuality
SIO_000300: 1.619e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.362e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

GenotypeQuality
all individuals: 4412
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3029
bin: 9.25e1
variant carriers: 1

GenotypeQuality
all individuals: 127
bin: 4.25e1
variant carriers: 0

African
type: Population
allele count: 528
allele frequency: 5.086705202312139e-2
allele num: 10380
num of homozygotes: 11

East Asian
type: Population
allele count: 64
allele frequency: 7.397133610725843e-3
allele num: 8652
num of homozygotes: 0

Latino
type: Population
allele count: 120
allele frequency: 1.03950103950104e-2
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2899
allele frequency: 4.347630473905219e-2
allele num: 66680
num of homozygotes: 51

Other
type: Population
allele count: 29
allele frequency: 3.193832599118943e-2
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 430
allele frequency: 2.605113292136193e-2
allele num: 16506
num of homozygotes: 15

European (Finnish)
type: Population
allele count: 269
allele frequency: 4.069591527987897e-2
allele num: 6610
num of homozygotes: 8

MQRankSum
type: SiteQuality
SIO_000300: 9.7e-2

DP
type: SiteQuality
SIO_000300: 2.53336e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.500000000000001e-3

QD
type: SiteQuality
SIO_000300: 1.619e1

VQSLOD
type: SiteQuality
SIO_000300: 6.14e0

MQ
type: SiteQuality
SIO_000300: 5.971e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.362e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.6e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 98
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5964
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 142
bin: 3.75e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10382
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: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.414e0

MQRankSum
type: SiteQuality
SIO_000300: -1.73e-1

QD
type: SiteQuality
SIO_000300: 2.262e1

VQSLOD
type: SiteQuality
SIO_000300: -1.446e0

MQ
type: SiteQuality
SIO_000300: 5.957e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.768e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.68e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.43e-1

DP
type: SiteQuality
SIO_000300: 2.502417e6

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 43

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 77

GenotypeQuality
all individuals: 667
bin: 6.25e1
variant carriers: 227

GenotypeQuality
all individuals: 56043
bin: 9.75e1
variant carriers: 55861

Latino
type: Population
allele count: 10657
allele frequency: 9.228437824731556e-1
allele num: 11548
num of homozygotes: 4923

European (Finnish)
type: Population
allele count: 5493
allele frequency: 8.310136157337368e-1
allele num: 6610
num of homozygotes: 2284

East Asian
type: Population
allele count: 8306
allele frequency: 9.604532839962997e-1
allele num: 8648
num of homozygotes: 3990

African
type: Population
allele count: 8809
allele frequency: 8.486512524084778e-1
allele num: 10380
num of homozygotes: 3748

South Asian
type: Population
allele count: 14867
allele frequency: 9.004845548152635e-1
allele num: 16510
num of homozygotes: 6705

European (Non-Finnish)
type: Population
allele count: 57699
allele frequency: 8.655715571557155e-1
allele num: 66660
num of homozygotes: 24995

Other
type: Population
allele count: 792
allele frequency: 8.722466960352423e-1
allele num: 908
num of homozygotes: 345

MQ
type: SiteQuality
SIO_000300: 5.971e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 8.599999999999999e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -3.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.04e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

QD
type: SiteQuality
SIO_000300: 3.08e1

DP
type: SiteQuality
SIO_000300: 3.851409e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

VQSLOD
type: SiteQuality
SIO_000300: 4.49e0

GenotypeQuality
all individuals: 714
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66314
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11496
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: 1
allele frequency: 9.733307377846993e-5
allele num: 10274
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

DP
type: SiteQuality
SIO_000300: 2.302663e6

VQSLOD
type: SiteQuality
SIO_000300: -3.578e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

QD
type: SiteQuality
SIO_000300: 2.28e0

FS
type: SiteQuality
SIO_000300: 2.933e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

MQRankSum
type: SiteQuality
SIO_000300: -8.159999999999999e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 714
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3627
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1122
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.159554730983302e-4
allele num: 8624
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: 11496
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 2.28e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -2.38e-1

FS
type: SiteQuality
SIO_000300: 2.933e0

DP
type: SiteQuality
SIO_000300: 2.302663e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -8.159999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.25e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.578e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

GenotypeQuality
all individuals: 173
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1115
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.707767328456984e-5
allele num: 11484
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16488
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66276
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 1
allele frequency: 9.750390015600624e-5
allele num: 10256
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.4e-3

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

QD
type: SiteQuality
SIO_000300: 1.97e0

VQSLOD
type: SiteQuality
SIO_000300: -2.662e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.288128e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.92e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.422e0

MQ
type: SiteQuality
SIO_000300: 5.966e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.38e-1

GenotypeQuality
all individuals: 120
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 12161
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 6683
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16478
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.713837574067619e-5
allele num: 11476
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.956181533646322e-4
allele num: 10224
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66186
num of homozygotes: 0

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.9e-2

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: -3.66e-1

FS
type: SiteQuality
SIO_000300: 7.0e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.56e0

DP
type: SiteQuality
SIO_000300: 2.240541e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.434e0

QD
type: SiteQuality
SIO_000300: 1.472e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-2

GenotypeQuality
all individuals: 1759
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2373
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2940
bin: 2.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8498
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: 6586
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527557130636686e-5
allele num: 65464
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.91e-1

MQRankSum
type: SiteQuality
SIO_000300: -7.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.204e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.17862e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-2

QD
type: SiteQuality
SIO_000300: 1.47e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 3156
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12933
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1724
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11368
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9966
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: 904
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.353494939985879e-4
allele num: 8498
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65464
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.91e-1

DP
type: SiteQuality
SIO_000300: 2.17862e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.4e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.204e0

VQSLOD
type: SiteQuality
SIO_000300: 8.2e-2

MQRankSum
type: SiteQuality
SIO_000300: -7.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.91e-1

QD
type: SiteQuality
SIO_000300: 1.47e1

GenotypeQuality
all individuals: 4336
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12125
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3061
bin: 7.75e1
variant carriers: 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: 9726
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.119951040391677e-5
allele num: 16340
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64554
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.597e1

VQSLOD
type: SiteQuality
SIO_000300: 4.76e0

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 9.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.159334e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.71e-1

GenotypeQuality
all individuals: 880
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 821
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1174
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510254628930438e-5
allele num: 66214
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.500583430571762e-4
allele num: 8570
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16398
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11404
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.75e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

DP
type: SiteQuality
SIO_000300: 1.743203e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.942e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.669999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.71e-1

QD
type: SiteQuality
SIO_000300: 1.531e1

GenotypeQuality
all individuals: 812
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 336
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38396
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66320
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8594
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16412
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.745845723281441e-5
allele num: 11434
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.2e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.4e-2

DP
type: SiteQuality
SIO_000300: 1.768755e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -7.547e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.43e0

FS
type: SiteQuality
SIO_000300: 1.992e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.875e1

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 232
bin: 4.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16420
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.739730816290858e-5
allele num: 11442
num of homozygotes: 0

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8610
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.461e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.19e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e0

FS
type: SiteQuality
SIO_000300: 2.183e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 2.84e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.15e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.11e-1

DP
type: SiteQuality
SIO_000300: 1.777681e6

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16428
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11446
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.504981488727689e-5
allele num: 66446
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.780924e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.26e0

QD
type: SiteQuality
SIO_000300: 1.523e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.41e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.88e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.85e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 5.39e-1

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.503488092374308e-5
allele num: 66512
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11478
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: 6590
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.209e0

FS
type: SiteQuality
SIO_000300: 1.953e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.8e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 6.26e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -5.15e-1

DP
type: SiteQuality
SIO_000300: 1.789615e6

QD
type: SiteQuality
SIO_000300: 1.707e1

VQSLOD
type: SiteQuality
SIO_000300: -1.688e-1

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40789
bin: 6.25e1
variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10320
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502765087761481e-5
allele num: 66544
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16460
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.44e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.404e0

VQSLOD
type: SiteQuality
SIO_000300: 4.91e-1

QD
type: SiteQuality
SIO_000300: 1.582e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.791724e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.97e-1

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1788
bin: 7.25e1
variant carriers: 0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001560811622043e-5
allele num: 66632
num of homozygotes: 0

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

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

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6598
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: 8.169999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.85e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 1.107e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.09e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.34e0

MQ
type: SiteQuality
SIO_000300: 5.815e1

DP
type: SiteQuality
SIO_000300: 1.798489e6

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 810
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11524
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66640
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.43e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.98e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.88e-1

DP
type: SiteQuality
SIO_000300: 1.799555e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

QD
type: SiteQuality
SIO_000300: 1.798e1

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1791
bin: 7.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66644
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10356
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.89e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.21e0

MQRankSum
type: SiteQuality
SIO_000300: -5.71e-1

DP
type: SiteQuality
SIO_000300: 1.79994e6

FS
type: SiteQuality
SIO_000300: 1.198e0

VQSLOD
type: SiteQuality
SIO_000300: -1.794e-1

QD
type: SiteQuality
SIO_000300: 1.285e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.577e0

GenotypeQuality
all individuals: 800
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1051
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1777
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 491
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 7
allele frequency: 6.064806792583608e-4
allele num: 11542
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

African
type: Population
allele count: 11
allele frequency: 1.061776061776062e-3
allele num: 10360
num of homozygotes: 0

South Asian
type: Population
allele count: 25
allele frequency: 1.514967882680887e-3
allele num: 16502
num of homozygotes: 2

European (Finnish)
type: Population
allele count: 7
allele frequency: 1.059001512859304e-3
allele num: 6610
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 216
allele frequency: 3.238963531669866e-3
allele num: 66688
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.118e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.85e-1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.66e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -2.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.53e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.98e0

MQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

DP
type: SiteQuality
SIO_000300: 1.817127e6

GenotypeQuality
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bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1786
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.999220202747286e-5
allele num: 66684
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.799383e6

MQRankSum
type: SiteQuality
SIO_000300: 1.25e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

FS
type: SiteQuality
SIO_000300: 6.157e0

VQSLOD
type: SiteQuality
SIO_000300: -4.94e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.88e-1

QD
type: SiteQuality
SIO_000300: 1.019e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.32e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.36e-1

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

GenotypeQuality
all individuals: 1050
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.499610101373643e-5
allele num: 66684
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10360
num of homozygotes: 0

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

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.38e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.3e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

FS
type: SiteQuality
SIO_000300: 3.24e0

QD
type: SiteQuality
SIO_000300: 7.21e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.428e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

DP
type: SiteQuality
SIO_000300: 1.799251e6

VQSLOD
type: SiteQuality
SIO_000300: -1.241e0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
all individuals: 489
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GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66660
num of homozygotes: 0

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

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.47e0

QD
type: SiteQuality
SIO_000300: 1.39e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.798138e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.68e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.85e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -2.11e-1

GenotypeQuality
all individuals: 489
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1748
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.000300030003e-5
allele num: 66660
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

DP
type: SiteQuality
SIO_000300: 1.798207e6

VQSLOD
type: SiteQuality
SIO_000300: 6.35e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.251e1

GenotypeQuality
all individuals: 8284
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1048
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 4.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66650
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 2
allele frequency: 1.933114247052001e-4
allele num: 10346
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -4.563e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: -8.120000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.797657e6

MQ
type: SiteQuality
SIO_000300: 5.939e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.209e0

FS
type: SiteQuality
SIO_000300: 1.0294e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.57e-1

QD
type: SiteQuality
SIO_000300: 1.145e1

GenotypeQuality
all individuals: 486
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 233
bin: 2.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500375093773443e-5
allele num: 66650
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11532
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: 8640
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 8.77e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.11e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

VQSLOD
type: SiteQuality
SIO_000300: -1.06e0

MQ
type: SiteQuality
SIO_000300: 5.882e1

DP
type: SiteQuality
SIO_000300: 1.79763e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.06e-1

GenotypeQuality
all individuals: 1743
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 486
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41477
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: 8.96e-1

QD
type: SiteQuality
SIO_000300: 1.336e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.49e0

FS
type: SiteQuality
SIO_000300: 1.067e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.07e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.36e0

DP
type: SiteQuality
SIO_000300: 1.79693e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 8
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4692
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.064281382656155e-5
allele num: 16490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66588
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.795205e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.5e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.13e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.09e0

FS
type: SiteQuality
SIO_000300: 1.802e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.722e0

QD
type: SiteQuality
SIO_000300: 9.619999999999999e0

GenotypeQuality
all individuals: 6
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1760
bin: 7.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 9
allele frequency: 8.715862870424172e-4
allele num: 10326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66578
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8630
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 7.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.516e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.45e-1

DP
type: SiteQuality
SIO_000300: 1.794436e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.913e0

VQSLOD
type: SiteQuality
SIO_000300: 2.94e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.41e-1

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 2.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10260
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66448
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.076072426783327e-5
allele num: 16458
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.873e0

VQSLOD
type: SiteQuality
SIO_000300: -1.902e-1

MQRankSum
type: SiteQuality
SIO_000300: -8.92e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.27e-1

DP
type: SiteQuality
SIO_000300: 1.788087e6

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 8.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.572e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.522e0

GenotypeQuality
all individuals: 8171
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 5.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8584
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11456
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16432
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.017956843217142e-5
allele num: 66270
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.214e1

MQRankSum
type: SiteQuality
SIO_000300: 6.03e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

DP
type: SiteQuality
SIO_000300: 1.782367e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 1.68e0

MQ
type: SiteQuality
SIO_000300: 5.922e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.29e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

GenotypeQuality
all individuals: 1585
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37468
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.086610284585468e-5
allele num: 64796
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9520
num of homozygotes: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11254
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.19e0

FS
type: SiteQuality
SIO_000300: 3.187e0

MQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

QD
type: SiteQuality
SIO_000300: 1.353e1

MQ
type: SiteQuality
SIO_000300: 5.938e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.64e-1

DP
type: SiteQuality
SIO_000300: 1.726531e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.42e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.343e0

GenotypeQuality
all individuals: 213
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5487
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 969
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1503
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11152
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6394
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9376
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.202704379109291e-5
allele num: 16122
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63940
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.64e0

DP
type: SiteQuality
SIO_000300: 1.689943e6

QD
type: SiteQuality
SIO_000300: 6.17e0

MQ
type: SiteQuality
SIO_000300: 5.93e1

VQSLOD
type: SiteQuality
SIO_000300: -1.814e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.6e-3

FS
type: SiteQuality
SIO_000300: 5.359e0

MQRankSum
type: SiteQuality
SIO_000300: -6.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.860000000000001e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.23e0

GenotypeQuality
all individuals: 115
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 770
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6849
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11096
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6352
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8220
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.577336824505505e-5
allele num: 63398
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16052
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.11e-1

DP
type: SiteQuality
SIO_000300: 1.668475e6

MQ
type: SiteQuality
SIO_000300: 5.262e1

MQRankSum
type: SiteQuality
SIO_000300: -4.644e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.72e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

FS
type: SiteQuality
SIO_000300: 3.061e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.44e-1

QD
type: SiteQuality
SIO_000300: 3.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.853e0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 438
bin: 8.75e1
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GenotypeQuality
all individuals: 3087
bin: 6.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 5930
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7440
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10584
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.719040088014852e-5
allele num: 58172
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-2

DP
type: SiteQuality
SIO_000300: 1.385922e6

MQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.531e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

GenotypeQuality
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bin: 8.75e1
variant carriers: 0

GenotypeQuality
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bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16529
bin: 2.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7440
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 808
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 9.44822373393802e-5
allele num: 10584
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58172
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5930
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.54e0

MQRankSum
type: SiteQuality
SIO_000300: 9.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

DP
type: SiteQuality
SIO_000300: 1.385922e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.64e0

VQSLOD
type: SiteQuality
SIO_000300: 1.15e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.531e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.7e-2

GenotypeQuality
all individuals: 324
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1944
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2894
bin: 3.75e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 1.228501228501228e-4
allele num: 8140
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7020
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 794
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10308
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5694
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55508
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.887e0

DP
type: SiteQuality
SIO_000300: 1.259201e6

VQSLOD
type: SiteQuality
SIO_000300: 8.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.8e-3

MQ
type: SiteQuality
SIO_000300: 5.118e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.69e-1

FS
type: SiteQuality
SIO_000300: 3.458e0

QD
type: SiteQuality
SIO_000300: 9.74e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.28e0

GenotypeQuality
all individuals: 101
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 580
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 108
bin: 5.75e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 236
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1330
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.961849067112225e-5
allele num: 14364
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 292
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2732
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1916
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.86408e5

QD
type: SiteQuality
SIO_000300: 2.34e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.832e0

MQRankSum
type: SiteQuality
SIO_000300: -4.12e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.231e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.15e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.579e0

GenotypeQuality
all individuals: 226
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 751
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14923
bin: 6.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8156
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15092
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.906976744186046e-4
allele num: 10320
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5692
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 55558
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7044
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.7e-3

MQ
type: SiteQuality
SIO_000300: 5.946e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.49e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.55e0

QD
type: SiteQuality
SIO_000300: 1.686e1

VQSLOD
type: SiteQuality
SIO_000300: 6.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.67e-1

DP
type: SiteQuality
SIO_000300: 1.257845e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.58e-1

GenotypeQuality
all individuals: 741
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 430
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13460
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14294
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5074
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 742
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7276
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9818
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.994336085517131e-5
allele num: 50142
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6110
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.1e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.3e-1

DP
type: SiteQuality
SIO_000300: 1.127575e6

MQRankSum
type: SiteQuality
SIO_000300: -9.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.821e0

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 2.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.15e-1

QD
type: SiteQuality
SIO_000300: 1.041e1

GenotypeQuality
all individuals: 430
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 739
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 801
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46136
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 700
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.505570611261668e-4
allele num: 6642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9368
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5186
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13704
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.05e0

MQRankSum
type: SiteQuality
SIO_000300: 1.47e0

VQSLOD
type: SiteQuality
SIO_000300: -2.795e-1

QD
type: SiteQuality
SIO_000300: 1.587e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.33e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.2e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.93e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.102301e6

MQ
type: SiteQuality
SIO_000300: 6.0e1