8-101199478-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101199478
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101199478
    reference: chr 8
allele count: 1
allele frequency: 8.395882659143956e-6
allele num: 119106
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.832G>C
  hgvsp: ENSP00000428070.1:p.Ala278Pro
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.832G>C
  hgvsp: ENSP00000251809.3:p.Ala278Pro
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.832G>C
  hgvsp: ENSP00000373450.2:p.Ala278Pro
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.832G>C
  hgvsp: ENSP00000427716.1:p.Ala278Pro
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3771
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1478
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 911
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25728
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1003
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 329
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11867
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11599
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 376
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8406
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33378
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2422
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 912
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ala278Pro
num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: VQSLOD

8-101199483-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101199483
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101199483
    reference: chr 8
allele count: 1
allele frequency: 8.45522955948254e-6
allele num: 118270
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.832+5A>G
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.832+5A>G
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.832+5A>G
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.832+5A>G
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11447
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2399
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3702
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 219
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1354
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 908
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1710
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 176
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3470
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 286
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2404
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1358
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8159
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 906
  bin: 8.75e1
  variant carriers: 0
hgvs: c.832+5A>G
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum

8-101199486-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101199486
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101199485
    reference: chr 8
allele count: 87
allele frequency: 7.388033084801032e-4
allele num: 117758
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.832+9delT
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.832+9delT
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.832+9delT
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.832+9delT
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 11029
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 809
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3661
  bin: 3.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 44
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1700
  bin: 4.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24477
  bin: 2.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 53
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 5.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 10952
  bin: 3.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 7809
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3141
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 905
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 941
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 428
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3442
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2400
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2515
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30851
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4908
  bin: 9.75e1
  variant carriers: 87
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Latino
population: East Asian
reference allele: AT
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

8-101199491-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101199491
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101199491
    reference: chr 8
allele count: 6
allele frequency: 5.115961800818554e-5
allele num: 117280
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.832+13A>G
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.832+13A>G
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.832+13A>G
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.832+13A>G
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3892
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 900
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 437
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 10772
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23908
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10661
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1080
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3613
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 614
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30110
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3608
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2496
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4827
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1208
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1355
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3422
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

http://identifiers.org/exac.variant/8-101199499-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101199499
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101199499
    reference: chr 8
allele count: 3
allele frequency: 2.578471482105408e-5
allele num: 116348
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.832+21C>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.832+21C>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.832+21C>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.832+21C>A
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9780
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26955
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6826
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4597
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: Other
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

8-101199499-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101199499
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101199499
    reference: chr 8
allele count: 1
allele frequency: 8.59490494035136e-6
allele num: 116348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.832+21C>T
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.832+21C>T
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.832+21C>T
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.832+21C>T
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2019
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1667
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9780
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9932
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3497
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21870
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2418
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4820
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6826
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 413
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2356
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2216
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1561
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4597
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3313
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26955
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 396
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

8-101199500-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101199500
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101199500
    reference: chr 8
allele count: 1
allele frequency: 8.60303859323113e-6
allele num: 116238
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.832+22T>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.832+22T>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.832+22T>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.832+22T>C
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2717
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3476
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21494
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6366
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2071
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1661
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9793
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26415
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1678
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1345
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 493
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4743
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1510
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2388
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 898
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6778
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3308
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 4.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: Latino
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum

http://identifiers.org/exac.variant/8-101199514-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101199514
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101199514
    reference: chr 8
allele count: 3
allele frequency: 2.615518744551003e-5
allele num: 114700
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.832+36C>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.832+36C>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.832+36C>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.832+36C>A
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8803
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7703
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8490
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1636
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8439
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2486
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16149
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 434
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3317
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3077
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1705
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 883
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4809
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2451
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 621
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1330
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4006
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5281
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2120
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4404
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18938
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/8-101199518-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101199518
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101199518
    reference: chr 8
allele count: 67
allele frequency: 5.859204197638828e-4
allele num: 114350
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.832+40A>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.832+40A>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.832+40A>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.832+40A>C
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13868
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 8334
  bin: 2.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3274
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 4.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 8381
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 2732
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11679
  bin: 1.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 433
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1627
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7094
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4856
  bin: 9.75e1
  variant carriers: 66
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 640
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4878
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1180
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2268
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4795
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3033
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5049
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2061
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2568
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5020
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15238
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 879
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 1
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum
site quality: DP

8-101199522-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101199522
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101199522
    reference: chr 8
allele count: 1
allele frequency: 8.777935780621829e-6
allele num: 113922
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.832+44A>G
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.832+44A>G
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.832+44A>G
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.832+44A>G
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 435
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8328
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9980
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11902
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1618
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12233
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6721
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3257
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4795
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2629
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4890
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 447
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 656
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 872
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2648
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1962
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5176
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4901
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4202
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12825
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP

8-101203568-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203568
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203568
    reference: chr 8
allele count: 2
allele frequency: 1.784726312220021e-5
allele num: 112062
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.833-50C>G
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.833-50C>G
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.833-50C>G
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.833-50C>G
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16299
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 13265
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2435
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3778
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1151
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 793
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12128
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5787
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3582
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6246
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10775
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3442
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5322
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6552
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3811
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 324
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2076
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1128
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4159
  bin: 9.75e1
  variant carriers: 2
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

8-101203574-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203574
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203574
    reference: chr 8
allele count: 5
allele frequency: 4.443022677187745e-5
allele num: 112536
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.833-44G>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.833-44G>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.833-44G>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.833-44G>A
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3715
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11902
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11589
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17719
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7737
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2528
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2487
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6030
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1133
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4717
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3805
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18904
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1991
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 322
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3126
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4351
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5217
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

8-101203578-C-CATATT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203578
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203583
    reference: chr 8
allele count: 1
allele frequency: 8.843609607697478e-6
allele num: 113076
alternate allele: CATATT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.833-38_833-34dupTATTA
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.833-38_833-34dupTATTA
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.833-38_833-34dupTATTA
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.833-38_833-34dupTATTA
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7810
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1162
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2681
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3646
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8449
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10885
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21775
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4308
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4022
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2335
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1486
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4171
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 445
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23633
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5270
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2373
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: African
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

8-101203580-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203580
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203580
    reference: chr 8
allele count: 2
allele frequency: 1.763948422148136e-5
allele num: 113382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.833-38T>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.833-38T>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.833-38T>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.833-38T>C
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2701
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23754
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6296
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8726
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3631
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10164
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 796
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 951
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4570
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4268
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4171
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1231
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4636
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2238
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 597
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 418
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25879
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4171
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Other
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: T
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum

8-101203584-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203584
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203584
    reference: chr 8
allele count: 1
allele frequency: 8.790899660671274e-6
allele num: 113754
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.833-34A>G
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.833-34A>G
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.833-34A>G
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.833-34A>G
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27576
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3298
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4173
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1232
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1252
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4431
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
population: South Asian
reference allele: A
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD

8-101203584-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203584
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203584
    reference: chr 8
allele count: 1
allele frequency: 8.790899660671274e-6
allele num: 113754
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.833-34A>T
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.833-34A>T
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.833-34A>T
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.833-34A>T
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3514
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27576
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 798
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9377
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2856
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 586
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1174
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3788
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1234
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 362
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 647
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3803
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4431
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1548
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4123
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1970
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 162
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30188
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4173
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Other
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ

http://identifiers.org/exac.variant/8-101203587-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203587
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203587
    reference: chr 8
allele count: 11
allele frequency: 9.616897763634138e-5
allele num: 114382
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.833-31A>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.833-31A>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.833-31A>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.833-31A>C
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9858
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30712
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2283
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1181
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 799
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2954
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 371
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2897
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1316
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4665
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3840
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2232
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1619
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1026
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33886
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

8-101203591-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203591
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203591
    reference: chr 8
allele count: 1
allele frequency: 8.677693122060432e-6
allele num: 115238
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.833-27A>G
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.833-27A>G
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.833-27A>G
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.833-27A>G
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1196
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4444
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1386
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3115
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3359
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1665
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 594
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2059
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1070
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1363
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4188
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1423
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: A
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: QD

8-101203593-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203593
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203593
    reference: chr 8
allele count: 3
allele frequency: 2.591747874766743e-5
allele num: 115752
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.833-25A>G
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.833-25A>G
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.833-25A>G
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.833-25A>G
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1100
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34076
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10585
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2702
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3750
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1724
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1377
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 366
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37838
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4939
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1673
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1110
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 637
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1150
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 339
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: African
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/8-101203595-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203595
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203595
    reference: chr 8
allele count: 1
allele frequency: 8.606444505645828e-6
allele num: 116192
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.833-23C>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.833-23C>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.833-23C>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.833-23C>A
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34848
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 324
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 588
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2453
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10802
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 803
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5003
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 643
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1438
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 923
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1691
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1085
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 958
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1383
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2791
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4191
  bin: 9.75e1
  variant carriers: 1
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

8-101203598-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203598
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203598
    reference: chr 8
allele count: 35
allele frequency: 2.987979784182489e-4
allele num: 117136
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.833-20T>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.833-20T>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.833-20T>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.833-20T>C
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3306
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1214
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11037
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 808
  bin: 4.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5124
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2328
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40229
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1039
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 590
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 655
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1740
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
population: East Asian
population: African
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD

8-101203615-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203615
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203615
    reference: chr 8
allele count: 2
allele frequency: 1.658319790388379e-5
allele num: 120604
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.833-3C>T
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.833-3C>T
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.833-3C>T
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.833-3C>T
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12224
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3582
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 378
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38816
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 468
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 502
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 432
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5492
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 7.75e1
  variant carriers: 0
hgvs: c.833-3C>T
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: FS

8-101203626-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203626
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203626
    reference: chr 8
allele count: 20
allele frequency: 1.65174589541145e-4
allele num: 121084
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.841C>T
  hgvsp: ENSP00000427716.1:p.Arg281Cys
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.841C>T
  hgvsp: ENSP00000373450.2:p.Arg281Cys
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.841C>T
  hgvsp: ENSP00000251809.3:p.Arg281Cys
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.841C>T
  hgvsp: ENSP00000428070.1:p.Arg281Cys
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38869
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 822
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 187
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44728
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1855
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5547
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg281Cys
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

8-101203627-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203627
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203627
    reference: chr 8
allele count: 8
allele frequency: 6.605892456070815e-5
allele num: 121104
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.842G>A
  hgvsp: ENSP00000427716.1:p.Arg281His
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.842G>A
  hgvsp: ENSP00000251809.3:p.Arg281His
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.842G>A
  hgvsp: ENSP00000373450.2:p.Arg281His
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.842G>A
  hgvsp: ENSP00000428070.1:p.Arg281His
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3634
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12509
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 892
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38879
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1856
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1505
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg281His
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: G
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

8-101203629-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203629
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203629
    reference: chr 8
allele count: 4
allele frequency: 3.302291790502609e-5
allele num: 121128
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.844C>T
  hgvsp: ENSP00000427716.1:p.Arg282Cys
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.844C>T
  hgvsp: ENSP00000428070.1:p.Arg282Cys
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.844C>T
  hgvsp: ENSP00000373450.2:p.Arg282Cys
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.844C>T
  hgvsp: ENSP00000251809.3:p.Arg282Cys
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3630
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12528
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38873
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 164
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5559
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4230
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 44806
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg282Cys
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: BaseQRankSum

8-101203630-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203630
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203630
    reference: chr 8
allele count: 7
allele frequency: 5.777961205117623e-5
allele num: 121150
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.845G>A
  hgvsp: ENSP00000428070.1:p.Arg282His
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.845G>A
  hgvsp: ENSP00000251809.3:p.Arg282His
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.845G>A
  hgvsp: ENSP00000373450.2:p.Arg282His
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.845G>A
  hgvsp: ENSP00000427716.1:p.Arg282His
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38878
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 825
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12534
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3639
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1506
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44853
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5563
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Arg282His
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum

8-101203634-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203634
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203634
    reference: chr 8
allele count: 2
allele frequency: 1.65016501650165e-5
allele num: 121200
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.849T>C
  hgvsp: ENST00000388798.2:c.849T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.849T>C
  hgvsp: ENST00000520643.1:c.849T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.849T>C
  hgvsp: ENST00000520508.1:c.849T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.849T>C
  hgvsp: ENST00000251809.3:c.849T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12575
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 819
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38883
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1509
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
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: 1848
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4230
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ala283Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
reference allele: T
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

8-101203635-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203635
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203635
    reference: chr 8
allele count: 1
allele frequency: 8.250416646040625e-6
allele num: 121206
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.850A>G
  hgvsp: ENSP00000428070.1:p.Thr284Ala
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.850A>G
  hgvsp: ENSP00000373450.2:p.Thr284Ala
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.850A>G
  hgvsp: ENSP00000427716.1:p.Thr284Ala
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.850A>G
  hgvsp: ENSP00000251809.3:p.Thr284Ala
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38880
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3640
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1270
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 889
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 599
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12579
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  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: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 131
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4230
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44902
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Thr284Ala
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: East Asian
population: African
reference allele: A
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: DP

8-101203640-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203640
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203640
    reference: chr 8
allele count: 4
allele frequency: 3.299513321785036e-5
allele num: 121230
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.855A>T
  hgvsp: ENST00000520508.1:c.855A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.855A>T
  hgvsp: ENST00000388798.2:c.855A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.855A>T
  hgvsp: ENST00000251809.3:c.855A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.855A>T
  hgvsp: ENST00000520643.1:c.855A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 155
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3638
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12594
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1271
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 891
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44937
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
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: 1845
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4233
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5582
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Thr285Thr
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
reference allele: A
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: InbreedingCoeff

8-101203641-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203641
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203641
    reference: chr 8
allele count: 3
allele frequency: 2.474594166556685e-5
allele num: 121232
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.856T>C
  hgvsp: ENSP00000251809.3:p.Tyr286His
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.856T>C
  hgvsp: ENSP00000428070.1:p.Tyr286His
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.856T>C
  hgvsp: ENSP00000427716.1:p.Tyr286His
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.856T>C
  hgvsp: ENSP00000373450.2:p.Tyr286His
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1269
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12589
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 469
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38887
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3642
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1504
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1176
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44937
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1846
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 506
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Tyr286His
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: East Asian
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum

8-101203662-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203662
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203662
    reference: chr 8
allele count: 140
allele frequency: 1.155001155001155e-3
allele num: 121212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.877C>T
  hgvsp: ENSP00000251809.3:p.Arg293Trp
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.877C>T
  hgvsp: ENSP00000428070.1:p.Arg293Trp
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.877C>T
  hgvsp: ENSP00000427716.1:p.Arg293Trp
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.877C>T
  hgvsp: ENSP00000373450.2:p.Arg293Trp
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1273
  bin: 3.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 605
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 3632
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 8.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 6.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 6.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 38719
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 7.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 8.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 917
  bin: 9.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 821
  bin: 4.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1495
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44767
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg293Trp
num of homozygotes: 1
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

8-101203663-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203663
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203663
    reference: chr 8
allele count: 7
allele frequency: 5.774815205913411e-5
allele num: 121216
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.878G>A
  hgvsp: ENSP00000428070.1:p.Arg293Gln
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.878G>A
  hgvsp: ENSP00000373450.2:p.Arg293Gln
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.878G>A
  hgvsp: ENSP00000427716.1:p.Arg293Gln
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.878G>A
  hgvsp: ENSP00000251809.3:p.Arg293Gln
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12639
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1493
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44862
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Arg293Gln
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

8-101203669-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203669
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203669
    reference: chr 8
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.884C>T
  hgvsp: ENSP00000373450.2:p.Ala295Val
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.884C>T
  hgvsp: ENSP00000427716.1:p.Ala295Val
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.884C>T
  hgvsp: ENSP00000428070.1:p.Ala295Val
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.884C>T
  hgvsp: ENSP00000251809.3:p.Ala295Val
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12633
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38726
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5552
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  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: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1836
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4240
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala295Val
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum

8-101203675-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203675
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203675
    reference: chr 8
allele count: 2
allele frequency: 1.650737054094653e-5
allele num: 121158
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.890A>G
  hgvsp: ENSP00000373450.2:p.Glu297Gly
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.890A>G
  hgvsp: ENSP00000428070.1:p.Glu297Gly
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.890A>G
  hgvsp: ENSP00000251809.3:p.Glu297Gly
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.890A>G
  hgvsp: ENSP00000427716.1:p.Glu297Gly
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12626
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3654
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38689
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4241
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5550
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Glu297Gly
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum

8-101203681-TGAGTA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203681
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203676
    reference: chr 8
allele count: 4
allele frequency: 3.302618976848641e-5
allele num: 121116
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.897_901delGAGTA
  hgvsp: ENSP00000428070.1:p.Lys301ThrfsTer4
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.897_901delGAGTA
  hgvsp: ENSP00000251809.3:p.Lys301ThrfsTer4
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.897_901delGAGTA
  hgvsp: ENSP00000373450.2:p.Lys301ThrfsTer4
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.897_901delGAGTA
  hgvsp: ENSP00000427716.1:p.Lys301ThrfsTer4
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12614
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38654
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 168
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4243
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44795
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys301ThrfsTer4
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
population: South Asian
reference allele: TGAGTA
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum

8-101203682-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203682
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203682
    reference: chr 8
allele count: 1
allele frequency: 8.257911078813503e-6
allele num: 121096
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.897G>C
  hgvsp: ENSP00000373450.2:p.Leu299Phe
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.897G>C
  hgvsp: ENSP00000427716.1:p.Leu299Phe
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.897G>C
  hgvsp: ENSP00000251809.3:p.Leu299Phe
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.897G>C
  hgvsp: ENSP00000428070.1:p.Leu299Phe
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  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: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4240
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Leu299Phe
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: African
population: Other
reference allele: G
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum

http://identifiers.org/exac.variant/8-101203683-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203683
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203683
    reference: chr 8
allele count: 1
allele frequency: 8.257501940512956e-6
allele num: 121102
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.898A>C
  hgvsp: ENSP00000428070.1:p.Ser300Arg
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.898A>C
  hgvsp: ENSP00000373450.2:p.Ser300Arg
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.898A>C
  hgvsp: ENSP00000251809.3:p.Ser300Arg
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.898A>C
  hgvsp: ENSP00000427716.1:p.Ser300Arg
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 176
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38640
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 473
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1832
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1488
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1170
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4244
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Ser300Arg
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
reference allele: A
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

8-101203684-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203684
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203684
    reference: chr 8
allele count: 1
allele frequency: 8.258320257659592e-6
allele num: 121090
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.899G>A
  hgvsp: ENSP00000251809.3:p.Ser300Asn
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.899G>A
  hgvsp: ENSP00000373450.2:p.Ser300Asn
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.899G>A
  hgvsp: ENSP00000428070.1:p.Ser300Asn
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.899G>A
  hgvsp: ENSP00000427716.1:p.Ser300Asn
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 81
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38621
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3655
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12611
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1280
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44760
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ser300Asn
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: South Asian
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: QD

8-101203687-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203687
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203687
    reference: chr 8
allele count: 8
allele frequency: 6.607529279614121e-5
allele num: 121074
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.902A>G
  hgvsp: ENSP00000251809.3:p.Lys301Arg
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.902A>G
  hgvsp: ENSP00000428070.1:p.Lys301Arg
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.902A>G
  hgvsp: ENSP00000427716.1:p.Lys301Arg
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.902A>G
  hgvsp: ENSP00000373450.2:p.Lys301Arg
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 332
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 604
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 160
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12606
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 7.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 883
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 823
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44712
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4247
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 273
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Lys301Arg
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: South Asian
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum

8-101203688-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203688
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203688
    reference: chr 8
allele count: 1
allele frequency: 8.259138737012504e-6
allele num: 121078
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.903A>G
  hgvsp: ENST00000388798.2:c.903A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.903A>G
  hgvsp: ENST00000251809.3:c.903A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.903A>G
  hgvsp: ENST00000520508.1:c.903A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.903A>G
  hgvsp: ENST00000520643.1:c.903A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3648
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38580
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1830
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4241
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44723
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5530
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys301Lys
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP

8-101203694-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203694
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203694
    reference: chr 8
allele count: 2
allele frequency: 1.652674026574998e-5
allele num: 121016
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.909A>G
  hgvsp: ENST00000520643.1:c.909A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.909A>G
  hgvsp: ENST00000251809.3:c.909A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.909A>G
  hgvsp: ENST00000520508.1:c.909A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.909A>G
  hgvsp: ENST00000388798.2:c.909A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1276
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 192
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3652
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4242
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 673
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5517
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Leu303Leu
num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: Latino
reference allele: A
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

8-101203696-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203696
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203696
    reference: chr 8
allele count: 1
allele frequency: 8.264189613566494e-6
allele num: 121004
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.911A>G
  hgvsp: ENSP00000251809.3:p.Asp304Gly
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.911A>G
  hgvsp: ENSP00000428070.1:p.Asp304Gly
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.911A>G
  hgvsp: ENSP00000373450.2:p.Asp304Gly
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.911A>G
  hgvsp: ENSP00000427716.1:p.Asp304Gly
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 38468
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3650
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 196
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12582
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 824
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1485
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5519
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 344
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1828
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4240
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Asp304Gly
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
reference allele: A
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff

8-101203706-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203706
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203706
    reference: chr 8
allele count: 2
allele frequency: 1.654506047219603e-5
allele num: 120882
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.921T>C
  hgvsp: ENST00000388798.2:c.921T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.921T>C
  hgvsp: ENST00000251809.3:c.921T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.921T>C
  hgvsp: ENST00000520643.1:c.921T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.921T>C
  hgvsp: ENST00000520508.1:c.921T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 470
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 412
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38172
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 830
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3666
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5494
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1168
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1487
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Pro307Pro
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: MQ

8-101203709-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203709
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203709
    reference: chr 8
allele count: 1
allele frequency: 8.275268532463878e-6
allele num: 120842
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.924T>A
  hgvsp: ENSP00000373450.2:p.Asp308Glu
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.924T>A
  hgvsp: ENSP00000251809.3:p.Asp308Glu
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.924T>A
  hgvsp: ENSP00000428070.1:p.Asp308Glu
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.924T>A
  hgvsp: ENSP00000427716.1:p.Asp308Glu
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12587
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 471
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38092
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3651
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1805
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1489
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44243
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 503
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 672
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp308Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum

8-101203725-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203725
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203725
    reference: chr 8
allele count: 8
allele frequency: 6.650152122229795e-5
allele num: 120298
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.939+1G>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.939+1G>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.939+1G>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.939+1G>A
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 515
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 698
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12689
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36524
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1106
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1306
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3719
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 333
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5396
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1476
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1163
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 294
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4251
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 42599
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 504
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1797
  bin: 7.75e1
  variant carriers: 0
hgvs: c.939+1G>A
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD

8-101203732-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203732
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203732
    reference: chr 8
allele count: 2
allele frequency: 1.668279336692136e-5
allele num: 119884
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.939+8T>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.939+8T>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.939+8T>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.939+8T>C
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3783
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1904
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 606
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12592
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 35273
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 710
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 938
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40302
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1864
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5307
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 446
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4255
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 512
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 536
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1183
  bin: 8.25e1
  variant carriers: 0
hgvs: c.939+8T>C
num of homozygotes: 0
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD

8-101203735-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203735
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203735
    reference: chr 8
allele count: 1
allele frequency: 8.359107247345984e-6
allele num: 119630
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.939+11A>T
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.939+11A>T
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.939+11A>T
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.939+11A>T
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 476
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3809
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12693
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1028
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 857
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 105
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39521
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1473
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2128
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1796
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 508
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5278
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 343
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD

8-101203737-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203737
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203737
    reference: chr 8
allele count: 23626
allele frequency: 1.979157940590078e-1
allele num: 119374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.939+13T>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.939+13T>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.939+13T>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.939+13T>C
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 1.25e1
  variant carriers: 198
genotype depth: GenotypeDepth
  all individuals: 1108
  bin: 5.75e1
  variant carriers: 887
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 121
genotype depth: GenotypeDepth
  all individuals: 3625
  bin: 4.25e1
  variant carriers: 3041
genotype depth: GenotypeDepth
  all individuals: 5302
  bin: 3.25e1
  variant carriers: 3082
genotype depth: GenotypeDepth
  all individuals: 22958
  bin: 2.25e1
  variant carriers: 1258
genotype depth: GenotypeDepth
  all individuals: 847
  bin: 7.5e0
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 2783
  bin: 4.75e1
  variant carriers: 2366
genotype depth: GenotypeDepth
  all individuals: 673
  bin: 6.25e1
  variant carriers: 516
genotype depth: GenotypeDepth
  all individuals: 10629
  bin: 2.75e1
  variant carriers: 2277
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 6.75e1
  variant carriers: 369
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 8.25e1
  variant carriers: 157
genotype depth: GenotypeDepth
  all individuals: 226
  bin: 8.75e1
  variant carriers: 155
genotype depth: GenotypeDepth
  all individuals: 1875
  bin: 5.25e1
  variant carriers: 1554
genotype depth: GenotypeDepth
  all individuals: 1225
  bin: 1.75e1
  variant carriers: 583
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 236
genotype depth: GenotypeDepth
  all individuals: 4079
  bin: 3.75e1
  variant carriers: 3270
genotype depth: GenotypeDepth
  all individuals: 1161
  bin: 9.75e1
  variant carriers: 774
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 265
genotype quality: GenotypeQuality
  all individuals: 2322
  bin: 2.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 2.5e0
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 255
  bin: 5.25e1
  variant carriers: 47
genotype quality: GenotypeQuality
  all individuals: 329
  bin: 3.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 27525
  bin: 6.25e1
  variant carriers: 64
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 7.25e1
  variant carriers: 67
genotype quality: GenotypeQuality
  all individuals: 638
  bin: 3.25e1
  variant carriers: 13
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 2.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2875
  bin: 6.75e1
  variant carriers: 83
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 4.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 789
  bin: 7.75e1
  variant carriers: 108
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 8.75e1
  variant carriers: 95
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 9.25e1
  variant carriers: 138
num of homozygotes: 2539
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: T
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum

8-101203738-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203738
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203738
    reference: chr 8
allele count: 1
allele frequency: 8.437679300685139e-6
allele num: 118516
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.939+14G>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.939+14G>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.939+14G>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.939+14G>A
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 17982
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1079
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1726
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6591
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24093
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 630
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 491
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1279
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4025
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1286
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39619
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 974
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1059
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1390
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5716
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 798
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3717
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ReadPosRankSum

8-101203739-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203739
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203739
    reference: chr 8
allele count: 1
allele frequency: 8.434832484226864e-6
allele num: 118556
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.939+15T>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.939+15T>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.939+15T>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.939+15T>C
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6515
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4400
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1184
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1325
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23792
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1720
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17850
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 559
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1404
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1061
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1313
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1166
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39191
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3966
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 340
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3459
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

8-101203746-TCA-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203746
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203744
    reference: chr 8
allele count: 1
allele frequency: 8.508610714042611e-6
allele num: 117528
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.939+24_939+25delAC
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.939+24_939+25delAC
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.939+24_939+25delAC
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.939+24_939+25delAC
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 2438
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16640
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1665
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7382
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6047
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1691
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 615
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34570
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1859
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 307
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 155
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2242
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 401
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 772
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1154
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1240
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3446
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 546
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: African
reference allele: TCA
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum

8-101203758-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203758
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203758
    reference: chr 8
allele count: 2
allele frequency: 1.726608767719322e-5
allele num: 115834
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.939+34G>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.939+34G>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.939+34G>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.939+34G>A
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12944
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1401
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 861
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 610
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11623
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2301
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4254
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12052
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12063
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4852
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6405
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3869
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8884
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1534
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 389
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 685
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 973
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1023
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3296
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: DP
site quality: ClippingRankSum

8-101203764-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101203764
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101203764
    reference: chr 8
allele count: 2
allele frequency: 1.748374012168683e-5
allele num: 114392
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.939+40G>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.939+40G>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.939+40G>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.939+40G>A
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3254
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12867
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 334
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 346
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 848
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1275
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2825
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 108
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10621
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 489
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 555
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9052
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15020
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 530
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 981
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4177
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2658
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7607
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8679
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3437
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 957
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2626
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP

8-101206298-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101206298
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101206298
    reference: chr 8
allele count: 1
allele frequency: 1.189202045427518e-5
allele num: 84090
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.940-42T>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.940-42T>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.940-42T>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.940-42T>C
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5412
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12773
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6951
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13133
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12248
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6221
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4851
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15633
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 287
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 750
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1449
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3122
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10959
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4264
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 348
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1656
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2415
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1014
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2227
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

8-101206332-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101206332
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101206332
    reference: chr 8
allele count: 1
allele frequency: 9.660155721710235e-6
allele num: 103518
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.940-8T>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.940-8T>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.940-8T>C
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.940-8T>C
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 35865
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9175
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2318
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2086
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8494
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39914
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 989
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8541
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 846
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3813
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 688
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 836
  bin: 2.75e1
  variant carriers: 0
hgvs: c.940-8T>C
num of homozygotes: 0
population: African
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff

8-101206333-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101206333
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101206333
    reference: chr 8
allele count: 1
allele frequency: 9.596560592683583e-6
allele num: 104204
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.940-7G>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.940-7G>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.940-7G>A
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.940-7G>A
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8148
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1962
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 536
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9282
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36213
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8207
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 684
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40233
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 993
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3825
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 3.25e1
  variant carriers: 0
hgvs: c.940-7G>A
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

8-101206357-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101206357
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101206357
    reference: chr 8
allele count: 144
allele frequency: 1.261807539300047e-3
allele num: 114122
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.957T>A
  hgvsp: ENST00000251809.3:c.957T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.957T>A
  hgvsp: ENST00000388798.2:c.957T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.957T>A
  hgvsp: ENST00000520643.1:c.957T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.957T>A
  hgvsp: ENST00000520508.1:c.957T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39712
  bin: 2.25e1
  variant carriers: 21
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11199
  bin: 2.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 1.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 2753
  bin: 3.25e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 890
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3536
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 4.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 5.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 714
  bin: 3.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 374
  bin: 4.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 44945
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4489
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1732
  bin: 9.75e1
  variant carriers: 135
genotype quality: GenotypeQuality
  all individuals: 377
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3681
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 358
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 228
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val319Val
num of homozygotes: 1
population: East Asian
population: South Asian
population: Other
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum

8-101206374-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101206374
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101206374
    reference: chr 8
allele count: 1
allele frequency: 8.588409083101446e-6
allele num: 116436
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.974A>G
  hgvsp: ENSP00000427716.1:p.Asn325Ser
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.974A>G
  hgvsp: ENSP00000428070.1:p.Asn325Ser
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.974A>G
  hgvsp: ENSP00000251809.3:p.Asn325Ser
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.974A>G
  hgvsp: ENSP00000373450.2:p.Asn325Ser
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 950
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2972
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12177
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 39391
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 317
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4624
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 241
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 838
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2638
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 394
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn325Ser
num of homozygotes: 0
population: African
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP

8-101206377-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101206377
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101206377
    reference: chr 8
allele count: 1
allele frequency: 8.576182226719954e-6
allele num: 116602
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.977C>T
  hgvsp: ENSP00000427716.1:p.Ser326Phe
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.977C>T
  hgvsp: ENSP00000373450.2:p.Ser326Phe
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.977C>T
  hgvsp: ENSP00000428070.1:p.Ser326Phe
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.977C>T
  hgvsp: ENSP00000251809.3:p.Ser326Phe
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39252
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12255
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2329
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3022
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1248
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 433
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2574
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 837
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1299
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser326Phe
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ

8-101206385-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101206385
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101206385
    reference: chr 8
allele count: 7
allele frequency: 5.973103966141033e-5
allele num: 117192
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.985G>T
  hgvsp: ENSP00000428070.1:p.Ala329Ser
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.985G>T
  hgvsp: ENSP00000427716.1:p.Ala329Ser
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.985G>T
  hgvsp: ENSP00000373450.2:p.Ala329Ser
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.985G>T
  hgvsp: ENSP00000251809.3:p.Ala329Ser
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 97
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 760
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 820
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1211
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38686
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2050
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12696
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3196
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 9.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 321
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44350
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 648
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 336
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 544
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 881
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala329Ser
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-101206391-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101206391
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101206391
    reference: chr 8
allele count: 23521
allele frequency: 1.985799436029921e-1
allele num: 118446
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.991G>A
  hgvsp: ENSP00000427716.1:p.Glu331Lys
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.991G>A
  hgvsp: ENSP00000251809.3:p.Glu331Lys
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.991G>A
  hgvsp: ENSP00000428070.1:p.Glu331Lys
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.991G>A
  hgvsp: ENSP00000373450.2:p.Glu331Lys
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3213
  bin: 3.75e1
  variant carriers: 2989
genotype depth: GenotypeDepth
  all individuals: 129
  bin: 9.25e1
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 7.25e1
  variant carriers: 353
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 4.25e1
  variant carriers: 2603
genotype depth: GenotypeDepth
  all individuals: 1839
  bin: 4.75e1
  variant carriers: 1804
genotype depth: GenotypeDepth
  all individuals: 885
  bin: 5.75e1
  variant carriers: 872
genotype depth: GenotypeDepth
  all individuals: 11817
  bin: 2.75e1
  variant carriers: 2543
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 8.25e1
  variant carriers: 202
genotype depth: GenotypeDepth
  all individuals: 1267
  bin: 5.25e1
  variant carriers: 1245
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 6.25e1
  variant carriers: 610
genotype depth: GenotypeDepth
  all individuals: 1298
  bin: 7.5e0
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.75e1
  variant carriers: 169
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 6.75e1
  variant carriers: 464
genotype depth: GenotypeDepth
  all individuals: 1857
  bin: 1.75e1
  variant carriers: 860
genotype depth: GenotypeDepth
  all individuals: 4813
  bin: 3.25e1
  variant carriers: 3174
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 7.75e1
  variant carriers: 229
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 9.75e1
  variant carriers: 898
genotype depth: GenotypeDepth
  all individuals: 929
  bin: 1.25e1
  variant carriers: 279
genotype depth: GenotypeDepth
  all individuals: 26978
  bin: 2.25e1
  variant carriers: 1649
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 2.75e1
  variant carriers: 27
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 9.25e1
  variant carriers: 172
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 8.25e1
  variant carriers: 171
genotype quality: GenotypeQuality
  all individuals: 1607
  bin: 2.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 3.75e1
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.25e1
  variant carriers: 31
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 5.25e1
  variant carriers: 92
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.75e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 19800
  bin: 9.75e1
  variant carriers: 19711
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 4.75e1
  variant carriers: 69
genotype quality: GenotypeQuality
  all individuals: 2642
  bin: 6.75e1
  variant carriers: 137
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 2.5e0
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 309
  bin: 4.25e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 7.25e1
  variant carriers: 86
hgvs: p.Glu331Lys
num of homozygotes: 2500
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum

8-101206399-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101206399
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101206399
    reference: chr 8
allele count: 2
allele frequency: 1.691732503256585e-5
allele num: 118222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.999A>T
  hgvsp: ENSP00000428070.1:p.Gln333His
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.999A>T
  hgvsp: ENSP00000373450.2:p.Gln333His
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.999A>T
  hgvsp: ENSP00000251809.3:p.Gln333His
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.999A>T
  hgvsp: ENSP00000427716.1:p.Gln333His
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2556
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5240
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27245
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1074
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1165
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 587
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2868
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3173
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 681
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 409
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 768
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 709
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1175
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40440
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gln333His
num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff

8-101206401-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101206401
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101206401
    reference: chr 8
allele count: 1
allele frequency: 8.459378066524549e-6
allele num: 118212
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.1001C>T
  hgvsp: ENSP00000428070.1:p.Thr334Ile
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.1001C>T
  hgvsp: ENSP00000427716.1:p.Thr334Ile
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.1001C>T
  hgvsp: ENSP00000251809.3:p.Thr334Ile
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.1001C>T
  hgvsp: ENSP00000373450.2:p.Thr334Ile
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2791
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1509
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5239
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 716
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41194
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 678
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2866
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 971
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1033
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Thr334Ile
num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum

8-101206406-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101206406
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101206406
    reference: chr 8
allele count: 1
allele frequency: 8.465393471488555e-6
allele num: 118128
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.1006G>C
  hgvsp: ENSP00000428070.1:p.Gly336Arg
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.1006G>C
  hgvsp: ENSP00000373450.2:p.Gly336Arg
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.1006G>C
  hgvsp: ENSP00000251809.3:p.Gly336Arg
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.1006G>C
  hgvsp: ENSP00000427716.1:p.Gly336Arg
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13885
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 996
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1526
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1634
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2946
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27243
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2558
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1835
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 319
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5186
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 723
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 646
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3338
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4804
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41033
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1127
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 756
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 509
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly336Arg
num of homozygotes: 0
population: Other
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

8-101206415-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101206415
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101206415
    reference: chr 8
allele count: 1
allele frequency: 8.471560969824299e-6
allele num: 118042
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.1015A>T
  hgvsp: ENSP00000427716.1:p.Met339Leu
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.1015A>T
  hgvsp: ENSP00000251809.3:p.Met339Leu
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.1015A>T
  hgvsp: ENSP00000428070.1:p.Met339Leu
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.1015A>T
  hgvsp: ENSP00000373450.2:p.Met339Leu
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5178
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1927
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13787
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 633
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1534
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2906
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1629
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 77
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2534
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 622
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1051
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40666
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 659
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1067
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4635
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3667
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1124
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2860
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 610
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met339Leu
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
reference allele: A
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

8-101206416-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101206416
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101206416
    reference: chr 8
allele count: 3
allele frequency: 2.538156959626383e-5
allele num: 118196
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.1016T>A
  hgvsp: ENSP00000251809.3:p.Met339Lys
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.1016T>A
  hgvsp: ENSP00000373450.2:p.Met339Lys
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.1016T>A
  hgvsp: ENSP00000428070.1:p.Met339Lys
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.1016T>A
  hgvsp: ENSP00000427716.1:p.Met339Lys
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13823
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27353
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1528
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 998
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2530
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5181
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1914
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 400
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41281
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 708
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4709
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 864
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3683
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1095
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 645
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 630
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Met339Lys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: Latino
population: African
population: East Asian
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQ

8-101206430-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101206430
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101206430
    reference: chr 8
allele count: 1
allele frequency: 8.479606546256254e-6
allele num: 117930
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.1030A>G
  hgvsp: ENSP00000427716.1:p.Ile344Val
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.1030A>G
  hgvsp: ENSP00000251809.3:p.Ile344Val
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.1030A>G
  hgvsp: ENSP00000373450.2:p.Ile344Val
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.1030A>G
  hgvsp: ENSP00000428070.1:p.Ile344Val
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27493
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5176
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13721
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1951
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1001
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2690
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1592
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2540
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4792
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 624
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1020
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 424
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 984
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41122
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4548
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ile344Val
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: A
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

8-101206434-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101206434
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101206434
    reference: chr 8
allele count: 1
allele frequency: 8.49213628180305e-6
allele num: 117756
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.1034A>G
  hgvsp: ENSP00000428070.1:p.Glu345Gly
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.1034A>G
  hgvsp: ENSP00000373450.2:p.Glu345Gly
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.1034A>G
  hgvsp: ENSP00000427716.1:p.Glu345Gly
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.1034A>G
  hgvsp: ENSP00000251809.3:p.Glu345Gly
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5162
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 782
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2762
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 641
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27375
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1995
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1674
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13601
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 223
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1009
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 396
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2560
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5521
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 452
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 843
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2859
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1006
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 303
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu345Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
population: East Asian
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP

8-101206441-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101206441
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101206441
    reference: chr 8
allele count: 1
allele frequency: 8.597860852219967e-6
allele num: 116308
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.1041C>T
  hgvsp: ENST00000520508.1:c.1041C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.1041C>T
  hgvsp: ENST00000388798.2:c.1041C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.1041C>T
  hgvsp: ENST00000520643.1:c.1041C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.1041C>T
  hgvsp: ENST00000251809.3:c.1041C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5037
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13480
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27311
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1751
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 436
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 343
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2714
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 952
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5789
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2853
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1499
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 245
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 543
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4067
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 586
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1470
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 618
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser347Ser
num of homozygotes: 0
population: African
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP

8-101206457-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101206457
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101206457
    reference: chr 8
allele count: 41
allele frequency: 3.732090516849023e-4
allele num: 109858
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.1057A>G
  hgvsp: ENSP00000373450.2:p.Lys353Glu
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.1057A>G
  hgvsp: ENSP00000251809.3:p.Lys353Glu
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.1057A>G
  hgvsp: ENSP00000428070.1:p.Lys353Glu
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.1057A>G
  hgvsp: ENSP00000427716.1:p.Lys353Glu
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2620
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 993
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2227
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2458
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4723
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 239
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13045
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1612
  bin: 4.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 639
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2395
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26064
  bin: 2.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 131
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 856
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 806
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2276
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 564
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2205
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 392
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3189
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5003
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1415
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1827
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 588
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 754
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Lys353Glu
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS

8-101206459-A-AGAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101206459
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101206462
    reference: chr 8
allele count: 23083
allele frequency: 1.990668874400635e-1
allele num: 115956
alternate allele: AGAC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.1059_1060insGAC
  hgvsp: ENSP00000428070.1:p.Lys353_Ser354insAsp
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.1059_1060insGAC
  hgvsp: ENSP00000373450.2:p.Lys353_Ser354insAsp
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.1059_1060insGAC
  hgvsp: ENSP00000251809.3:p.Lys353_Ser354insAsp
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.1059_1060insGAC
  hgvsp: ENSP00000427716.1:p.Lys353_Ser354insAsp
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1390
  bin: 4.25e1
  variant carriers: 1324
genotype depth: GenotypeDepth
  all individuals: 2547
  bin: 1.75e1
  variant carriers: 1794
genotype depth: GenotypeDepth
  all individuals: 13102
  bin: 2.75e1
  variant carriers: 3286
genotype depth: GenotypeDepth
  all individuals: 25865
  bin: 2.25e1
  variant carriers: 2767
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 8.75e1
  variant carriers: 281
genotype depth: GenotypeDepth
  all individuals: 400
  bin: 6.25e1
  variant carriers: 391
genotype depth: GenotypeDepth
  all individuals: 2356
  bin: 7.5e0
  variant carriers: 129
genotype depth: GenotypeDepth
  all individuals: 2398
  bin: 1.25e1
  variant carriers: 721
genotype depth: GenotypeDepth
  all individuals: 4605
  bin: 3.25e1
  variant carriers: 2917
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 5.75e1
  variant carriers: 403
genotype depth: GenotypeDepth
  all individuals: 2287
  bin: 3.75e1
  variant carriers: 2114
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 7.25e1
  variant carriers: 325
genotype depth: GenotypeDepth
  all individuals: 2023
  bin: 9.75e1
  variant carriers: 2019
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 5.25e1
  variant carriers: 607
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 8.25e1
  variant carriers: 254
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 9.25e1
  variant carriers: 261
genotype depth: GenotypeDepth
  all individuals: 262
  bin: 7.75e1
  variant carriers: 259
genotype depth: GenotypeDepth
  all individuals: 912
  bin: 4.75e1
  variant carriers: 888
genotype depth: GenotypeDepth
  all individuals: 323
  bin: 6.75e1
  variant carriers: 320
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.75e1
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 2.25e1
  variant carriers: 55
genotype quality: GenotypeQuality
  all individuals: 19491
  bin: 9.75e1
  variant carriers: 19404
genotype quality: GenotypeQuality
  all individuals: 207
  bin: 4.25e1
  variant carriers: 79
genotype quality: GenotypeQuality
  all individuals: 395
  bin: 2.75e1
  variant carriers: 50
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.5e0
  variant carriers: 42
genotype quality: GenotypeQuality
  all individuals: 139
  bin: 9.25e1
  variant carriers: 110
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 1.75e1
  variant carriers: 40
genotype quality: GenotypeQuality
  all individuals: 30265
  bin: 6.25e1
  variant carriers: 92
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 8.25e1
  variant carriers: 122
genotype quality: GenotypeQuality
  all individuals: 601
  bin: 7.25e1
  variant carriers: 148
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 5.25e1
  variant carriers: 120
genotype quality: GenotypeQuality
  all individuals: 354
  bin: 3.25e1
  variant carriers: 33
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 35
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 46
genotype quality: GenotypeQuality
  all individuals: 2577
  bin: 6.75e1
  variant carriers: 147
hgvs: p.Lys353_Ser354insAsp
num of homozygotes: 2305
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ

8-101206462-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101206462
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101206462
    reference: chr 8
allele count: 1
allele frequency: 8.776240960471811e-6
allele num: 113944
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.1062C>T
  hgvsp: ENST00000388798.2:c.1062C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.1062C>T
  hgvsp: ENST00000520508.1:c.1062C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.1062C>T
  hgvsp: ENST00000520643.1:c.1062C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.1062C>T
  hgvsp: ENST00000251809.3:c.1062C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16013
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3512
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26706
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1115
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3963
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3349
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 195
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 638
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4274
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 699
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 337
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 794
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 746
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37756
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1267
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6027
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Ser354Ser
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum

8-101206463-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101206463
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101206463
    reference: chr 8
allele count: 1
allele frequency: 9.192697321248e-6
allele num: 108782
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.1063G>A
  hgvsp: ENSP00000373450.2:p.Gly355Arg
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.1063G>A
  hgvsp: ENSP00000428070.1:p.Gly355Arg
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.1063G>A
  hgvsp: ENSP00000251809.3:p.Gly355Arg
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.1063G>A
  hgvsp: ENSP00000427716.1:p.Gly355Arg
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16045
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1008
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 605
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gly355Arg
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

8-101206463-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101206463
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101206463
    reference: chr 8
allele count: 3
allele frequency: 2.7578091963744e-5
allele num: 108782
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.1063G>T
  hgvsp: ENSP00000373450.2:p.Gly355Ter
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.1063G>T
  hgvsp: ENSP00000428070.1:p.Gly355Ter
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.1063G>T
  hgvsp: ENSP00000251809.3:p.Gly355Ter
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.1063G>T
  hgvsp: ENSP00000427716.1:p.Gly355Ter
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3377
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 431
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1643
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26688
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16045
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 391
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 318
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3551
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3944
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 193
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 391
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3424
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37176
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3421
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 451
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1603
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6179
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 412
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 769
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 804
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Gly355Ter
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

8-101206483-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 101206483
    reference: chr 8
  end: Position
    type: ExactPosition
    position: 101206483
    reference: chr 8
allele count: 0
allele frequency: 0.0e0
allele num: 104988
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000427716
  ensembl transcript: ENST00000520643
  gene symbol: SPAG1
  hgvsc: ENST00000520643.1:c.1083C>T
  hgvsp: ENST00000520643.1:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000373450
  ensembl transcript: ENST00000388798
  gene symbol: SPAG1
  hgvsc: ENST00000388798.2:c.1083C>T
  hgvsp: ENST00000388798.2:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000251809
  ensembl transcript: ENST00000251809
  gene symbol: SPAG1
  hgvsc: ENST00000251809.3:c.1083C>T
  hgvsp: ENST00000251809.3:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000104450
  ensembl protein: ENSP00000428070
  ensembl transcript: ENST00000520508
  gene symbol: SPAG1
  hgvsc: ENST00000520508.1:c.1083C>T
  hgvsp: ENST00000520508.1:c.1083C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/11212
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14641
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7679
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 677
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 228
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8117
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21591
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 296
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2848
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1426
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 239
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33600
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 604
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3156
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly361Gly
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4826
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3504
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1363
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1899
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9868
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.524204365321302e-5
allele num: 65608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8510
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16214
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.93e-1

MQ
type: SiteQuality
SIO_000300: 5.977e1

FS
type: SiteQuality
SIO_000300: 1.8735e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.87e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.382e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

DP
type: SiteQuality
SIO_000300: 1.754475e6

QD
type: SiteQuality
SIO_000300: 1.15e1

VQSLOD
type: SiteQuality
SIO_000300: -2.486e0

GenotypeQuality
all individuals: 4824
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 172
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2576
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32018
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.534683855125844e-5
allele num: 65160
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8444
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16070
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9722
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.59e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.128e0

FS
type: SiteQuality
SIO_000300: 4.676e0

QD
type: SiteQuality
SIO_000300: 2.425e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

DP
type: SiteQuality
SIO_000300: 1.729342e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

GenotypeQuality
all individuals: 294
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 315
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 793
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 51
allele frequency: 3.191888847164852e-3
allele num: 15978
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.136363636363636e-3
allele num: 880
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 29
allele frequency: 4.469101556480197e-4
allele num: 64890
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 5
allele frequency: 7.62660158633313e-4
allele num: 6556
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9628
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.759635599159075e-5
allele num: 11416
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 3.7e-1

DP
type: SiteQuality
SIO_000300: 1.709584e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.045e1

QD
type: SiteQuality
SIO_000300: 1.551e1

VQSLOD
type: SiteQuality
SIO_000300: 5.45e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.62e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.25e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.0e-4

GenotypeQuality
all individuals: 175
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7687
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.775008775008775e-5
allele num: 11396
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15872
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.136363636363636e-3
allele num: 880
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9570
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.186970240673143e-5
allele num: 64652
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

QD
type: SiteQuality
SIO_000300: 1.49e1

FS
type: SiteQuality
SIO_000300: 9.93e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e-1

DP
type: SiteQuality
SIO_000300: 1.689481e6

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

GenotypeQuality
all individuals: 4820
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 899
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 396
bin: 5.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.67406207154431e-5
allele num: 64184
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15688
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9446
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 2.259e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.633715e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.84e-1

QD
type: SiteQuality
SIO_000300: 1.337e1

VQSLOD
type: SiteQuality
SIO_000300: 6.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.365e0

MQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

GenotypeQuality
all individuals: 396
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2360
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1346
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9446
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8272
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.374298827129016e-5
allele num: 15688
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11356
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64184
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 6.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.365e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.6e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

QD
type: SiteQuality
SIO_000300: 1.337e1

FS
type: SiteQuality
SIO_000300: 2.259e0

DP
type: SiteQuality
SIO_000300: 1.633715e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.84e-1

GenotypeQuality
all individuals: 2352
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 203
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4816
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64126
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.383250351078769e-5
allele num: 15666
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8258
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11352
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.23e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.34e-1

DP
type: SiteQuality
SIO_000300: 1.624142e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.34e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.627e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.39e0

GenotypeQuality
all individuals: 2252
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1635
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5415
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8146
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9262
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.733503739467954e-5
allele num: 63378
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -8.53e-2

FS
type: SiteQuality
SIO_000300: 7.703e0

QD
type: SiteQuality
SIO_000300: 1.114e1

DP
type: SiteQuality
SIO_000300: 1.514364e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.872e0

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.28e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.57e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 670
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1327
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2232
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.583430978243658e-5
allele num: 63154
num of homozygotes: 0

Latino
type: Population
allele count: 5
allele frequency: 4.438920454545454e-4
allele num: 11264
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.310272536687631e-4
allele num: 15264
num of homozygotes: 1

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

African
type: Population
allele count: 59
allele frequency: 6.393584742089294e-3
allele num: 9228
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8084
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.87e0

FS
type: SiteQuality
SIO_000300: 1.053e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.56e-1

QD
type: SiteQuality
SIO_000300: 1.531e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e0

DP
type: SiteQuality
SIO_000300: 1.478933e6

GenotypeQuality
all individuals: 1321
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4788
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1999
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11250
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15186
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.589370291490511e-5
allele num: 62918
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9174
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8042
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.3e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.316e0

QD
type: SiteQuality
SIO_000300: 1.995e1

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: 9.91e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.58e0

DP
type: SiteQuality
SIO_000300: 1.460381e6

GenotypeQuality
all individuals: 1427
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2581
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 890
bin: 8.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9574
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6412
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10992
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7794
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 856
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.249179582155506e-5
allele num: 61554
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.6e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-3

QD
type: SiteQuality
SIO_000300: 1.126e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.361115e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

VQSLOD
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
all individuals: 4164
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 568
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1406
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6424
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9608
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7850
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11028
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 8.093234056328909e-5
allele num: 61780
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14988
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.77e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.06e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.388884e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -4.367e0

QD
type: SiteQuality
SIO_000300: 1.302e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.58e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.26e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4838
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2828
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 407
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11092
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.61051343168202e-5
allele num: 62092
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7896
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15052
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.35e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 5.88e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.422732e6

MQ
type: SiteQuality
SIO_000300: 4.824e1

VQSLOD
type: SiteQuality
SIO_000300: 1.77e0

MQRankSum
type: SiteQuality
SIO_000300: -2.533e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.8e-1

GenotypeQuality
all individuals: 2201
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1967
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6438
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.322576378785875e-4
allele num: 15122
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9670
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7912
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11112
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62266
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.33e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 4.12e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.76e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.76e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.439095e6

QD
type: SiteQuality
SIO_000300: 1.505e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e-1

GenotypeQuality
all individuals: 647
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3803
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30188
bin: 6.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11140
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.600922131147541e-5
allele num: 62464
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7966
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15164
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.478468e6

VQSLOD
type: SiteQuality
SIO_000300: 7.16e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-2

FS
type: SiteQuality
SIO_000300: 2.881e0

QD
type: SiteQuality
SIO_000300: 1.602e1

GenotypeQuality
all individuals: 3298
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1252
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1232
bin: 4.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62464
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9702
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11140
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6454
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.255335174491589e-4
allele num: 7966
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15164
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.2e-2

QD
type: SiteQuality
SIO_000300: 1.602e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 7.16e-1

FS
type: SiteQuality
SIO_000300: 2.881e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.36e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.799999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.478468e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 4188
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 741
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6474
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 866
num of homozygotes: 0

Latino
type: Population
allele count: 11
allele frequency: 9.831962817304254e-4
allele num: 11188
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8026
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62794
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.647e1

DP
type: SiteQuality
SIO_000300: 1.511821e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.7e0

FS
type: SiteQuality
SIO_000300: 3.438e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.38e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.46e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.97e-1

GenotypeQuality
all individuals: 628
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4878
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6494
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11248
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9814
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15384
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.57952930026852e-5
allele num: 63310
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.493e0

MQRankSum
type: SiteQuality
SIO_000300: -1.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.081e0

VQSLOD
type: SiteQuality
SIO_000300: 4.76e-1

DP
type: SiteQuality
SIO_000300: 1.543807e6

ClippingRankSum
type: SiteQuality
SIO_000300: -8.51e-1

QD
type: SiteQuality
SIO_000300: 9.800000000000001e0

GenotypeQuality
all individuals: 1080
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4189
bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15460
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.146788990825688e-3
allele num: 872
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63620
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6500
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11276
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.446782481037436e-4
allele num: 8174
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9850
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.2e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.22e0

VQSLOD
type: SiteQuality
SIO_000300: -8.255e-1

DP
type: SiteQuality
SIO_000300: 1.557328e6

FS
type: SiteQuality
SIO_000300: 7.117e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

MQRankSum
type: SiteQuality
SIO_000300: -1.493e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.42e0

QD
type: SiteQuality
SIO_000300: 1.339e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

GenotypeQuality
all individuals: 322
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 38589
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11292
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.011326860841424e-4
allele num: 9888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63862
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6508
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8240
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15528
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

QD
type: SiteQuality
SIO_000300: 6.68e0

VQSLOD
type: SiteQuality
SIO_000300: -1.084e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.69e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.907e1

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.570294e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.76e-1

GenotypeQuality
all individuals: 4218
bin: 9.75e1
variant carriers: 35

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1123
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15700
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6526
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552939714880269e-5
allele num: 64394
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.759014951627089e-4
allele num: 11370
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 880
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

African
type: Population
allele count: 32
allele frequency: 3.210917118201886e-3
allele num: 9966
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.64e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.626e1

DP
type: SiteQuality
SIO_000300: 1.58832e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 5.88e0

GenotypeQuality
all individuals: 1483
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4219
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 44396
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1160
bin: 8.25e1
variant carriers: 0

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

African
type: Population
allele count: 2
allele frequency: 1.938360147315371e-4
allele num: 10318
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11512
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16344
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: 6586
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66334
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.421e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.59e-1

DP
type: SiteQuality
SIO_000300: 1.645811e6

MQRankSum
type: SiteQuality
SIO_000300: 6.32e-1

QD
type: SiteQuality
SIO_000300: 9.99e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.355e0

FS
type: SiteQuality
SIO_000300: 1.6957e1

GenotypeQuality
all individuals: 4238
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 676
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 5.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 16
allele frequency: 9.714632665452338e-4
allele num: 16470
num of homozygotes: 0

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

Latino
type: Population
allele count: 4
allele frequency: 3.466805338880222e-4
allele num: 11538
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6600
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: 66558
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.576e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.117e1

VQSLOD
type: SiteQuality
SIO_000300: 3.69e0

MQRankSum
type: SiteQuality
SIO_000300: -9.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.62e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.96e-1

DP
type: SiteQuality
SIO_000300: 1.653256e6

GenotypeQuality
all individuals: 5567
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 509
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1173
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4234
bin: 9.75e1
variant carriers: 8

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: 6602
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.008893161879582e-5
allele num: 66568
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

African
type: Population
allele count: 4
allele frequency: 3.854307188282906e-4
allele num: 10378
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.28e1

MQRankSum
type: SiteQuality
SIO_000300: 6.03e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.95e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

DP
type: SiteQuality
SIO_000300: 1.653481e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.65e-1

FS
type: SiteQuality
SIO_000300: 6.44e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 674
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1851
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 507
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1507
bin: 7.25e1
variant carriers: 0

Latino
type: Population
allele count: 2
allele frequency: 1.733102253032929e-4
allele num: 11540
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.92789666473877e-4
allele num: 10374
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66576
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.215e1

VQSLOD
type: SiteQuality
SIO_000300: 2.63e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

FS
type: SiteQuality
SIO_000300: 2.129e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.42e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

DP
type: SiteQuality
SIO_000300: 1.653712e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.168e0

GenotypeQuality
all individuals: 4233
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 21
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1848
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6608
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: 1
allele frequency: 6.063545961678389e-5
allele num: 16492
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: 5
allele frequency: 4.819741661846925e-4
allele num: 10374
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

MQ
type: SiteQuality
SIO_000300: 5.974e1

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

FS
type: SiteQuality
SIO_000300: 2.113e0

MQRankSum
type: SiteQuality
SIO_000300: -1.59e-1

DP
type: SiteQuality
SIO_000300: 1.654014e6

QD
type: SiteQuality
SIO_000300: 1.216e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.28e-1

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

GenotypeQuality
all individuals: 44904
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.001741009785676e-5
allele num: 66628
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
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: 6610
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.98e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.65429e6

FS
type: SiteQuality
SIO_000300: 4.273e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.370000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.31e0

QD
type: SiteQuality
SIO_000300: 1.392e1

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

GenotypeQuality
all individuals: 506
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1509
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5008254539997e-5
allele num: 66630
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16494
num of homozygotes: 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: 10374
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.88e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 6.24e0

VQSLOD
type: SiteQuality
SIO_000300: 4.74e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.18e-1

MQ
type: SiteQuality
SIO_000300: 5.938e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.58e-1

QD
type: SiteQuality
SIO_000300: 1.281e1

DP
type: SiteQuality
SIO_000300: 1.65449e6

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
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: 10378
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: 4
allele frequency: 6.002040693835904e-5
allele num: 66644
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.01e0

DP
type: SiteQuality
SIO_000300: 1.655014e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.1e-2

MQRankSum
type: SiteQuality
SIO_000300: 2.25e-1

FS
type: SiteQuality
SIO_000300: 5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.78e0

QD
type: SiteQuality
SIO_000300: 1.228e1

MQ
type: SiteQuality
SIO_000300: 5.981e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

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

GenotypeQuality
all individuals: 4233
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 5582
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11552
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: 906
num of homozygotes: 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: 10378
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.21256214380987e-4
allele num: 16494
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.304e1

VQSLOD
type: SiteQuality
SIO_000300: 2.94e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.38e0

DP
type: SiteQuality
SIO_000300: 1.655004e6

FS
type: SiteQuality
SIO_000300: 9.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.13e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.72e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.11e-1

GenotypeQuality
all individuals: 4346
bin: 9.75e1
variant carriers: 138

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.818402230573403e-4
allele num: 16498
num of homozygotes: 1

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.35070236522992e-4
allele num: 66632
num of homozygotes: 0

African
type: Population
allele count: 120
allele frequency: 1.156737998843262e-2
allele num: 10374
num of homozygotes: 0

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

Latino
type: Population
allele count: 7
allele frequency: 6.061655697956356e-4
allele num: 11548
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.02e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.03e-1

DP
type: SiteQuality
SIO_000300: 1.661743e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.61e-1

MQ
type: SiteQuality
SIO_000300: 5.964e1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.4e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.07e0

QD
type: SiteQuality
SIO_000300: 1.317e1

GenotypeQuality
all individuals: 28
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4244
bin: 9.75e1
variant carriers: 7

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

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

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

Latino
type: Population
allele count: 2
allele frequency: 1.73190162798753e-4
allele num: 11548
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50073536032656e-5
allele num: 66634
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.473026163463765e-4
allele num: 8638
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -2.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.48e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

VQSLOD
type: SiteQuality
SIO_000300: 8.93e-1

FS
type: SiteQuality
SIO_000300: 5.31e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.24e-1

QD
type: SiteQuality
SIO_000300: 1.145e1

DP
type: SiteQuality
SIO_000300: 1.654173e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

GenotypeQuality
all individuals: 1497
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44866
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157943492357573e-4
allele num: 8636
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10372
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

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

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

MQRankSum
type: SiteQuality
SIO_000300: -6.39e-1

DP
type: SiteQuality
SIO_000300: 1.653401e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -3.659e0

VQSLOD
type: SiteQuality
SIO_000300: 5.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.055e0

MQ
type: SiteQuality
SIO_000300: 5.976e1

QD
type: SiteQuality
SIO_000300: 1.389e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

GenotypeQuality
all individuals: 44844
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1836
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.002732486562772e-5
allele num: 66606
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16496
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.79e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.2e-1

FS
type: SiteQuality
SIO_000300: 3.778e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.652962e6

QD
type: SiteQuality
SIO_000300: 8.789999999999999e0

MQRankSum
type: SiteQuality
SIO_000300: 4.01e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.66e0

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

GenotypeQuality
all individuals: 47
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5543
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.007629689705926e-5
allele num: 66582
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11538
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
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: 10350
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.785e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.652378e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.76e-1

QD
type: SiteQuality
SIO_000300: 7.8e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.55e-1

MQ
type: SiteQuality
SIO_000300: 5.311e1

VQSLOD
type: SiteQuality
SIO_000300: 1.64e0

MQRankSum
type: SiteQuality
SIO_000300: -4.475e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.29e-1

GenotypeQuality
all individuals: 1832
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44778
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5541
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66568
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.663703131039814e-5
allele num: 10348
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: 4.489e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.876e0

QD
type: SiteQuality
SIO_000300: 1.126e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.61e0

MQ
type: SiteQuality
SIO_000300: 5.519e1

DP
type: SiteQuality
SIO_000300: 1.652233e6

VQSLOD
type: SiteQuality
SIO_000300: -1.735e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.36e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.321e0

GenotypeQuality
all individuals: 5541
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 243
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44777
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 505
bin: 8.75e1
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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502133028901039e-5
allele num: 66572
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8632
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.009e1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

DP
type: SiteQuality
SIO_000300: 1.652443e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.192e1

FS
type: SiteQuality
SIO_000300: 2.297e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.46e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.69e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.11e-1

GenotypeQuality
all individuals: 5538
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1170
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4244
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 32
bin: 5.75e1
variant carriers: 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: 11534
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.158480074142725e-4
allele num: 8632
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.73e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.113e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.4e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 4.278e0

DP
type: SiteQuality
SIO_000300: 1.652401e6

VQSLOD
type: SiteQuality
SIO_000300: 5.580000000000001e-1

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

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

GenotypeQuality
all individuals: 504
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1168
bin: 8.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66552
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: 7
allele frequency: 6.765899864682003e-4
allele num: 10346
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.671522719389525e-5
allele num: 11532
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.363e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 1.652198e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.75e-1

QD
type: SiteQuality
SIO_000300: 1.269e1

MQRankSum
type: SiteQuality
SIO_000300: 8.22e-1

MQ
type: SiteQuality
SIO_000300: 5.957e1

VQSLOD
type: SiteQuality
SIO_000300: 1.54e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.73e-1

GenotypeQuality
all individuals: 1168
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1488
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 674
bin: 9.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10346
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.158748551564311e-4
allele num: 8630
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: 66556
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.377e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.7e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.63e-1

QD
type: SiteQuality
SIO_000300: 1.152e1

MQRankSum
type: SiteQuality
SIO_000300: -1.104e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.89e-1

DP
type: SiteQuality
SIO_000300: 1.65161e6

GenotypeQuality
all individuals: 1487
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 44613
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1167
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 504
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006343384541382e-5
allele num: 66526
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: 16484
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.587e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.7e-2

DP
type: SiteQuality
SIO_000300: 1.650694e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 6.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.716e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.55e-1

QD
type: SiteQuality
SIO_000300: 1.161e1

GenotypeQuality
all individuals: 76
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44601
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 673
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66522
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.067961165048543e-5
allele num: 16480
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8628
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10330
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.952e1

QD
type: SiteQuality
SIO_000300: 1.483e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

FS
type: SiteQuality
SIO_000300: 1.0387e1

DP
type: SiteQuality
SIO_000300: 1.650229e6

ClippingRankSum
type: SiteQuality
SIO_000300: -7.16e-1

VQSLOD
type: SiteQuality
SIO_000300: -8.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.37e0

MQRankSum
type: SiteQuality
SIO_000300: 5.48e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 504
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44283
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4241
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1808
bin: 7.75e1
variant carriers: 0

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

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

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.677542519958348e-5
allele num: 11524
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: 16468
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.842e0

VQSLOD
type: SiteQuality
SIO_000300: -1.593e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.45e0

DP
type: SiteQuality
SIO_000300: 1.648274e6

FS
type: SiteQuality
SIO_000300: 6.258e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.7e-2

QD
type: SiteQuality
SIO_000300: 7.24e0

MQ
type: SiteQuality
SIO_000300: 5.951e1

GenotypeQuality
all individuals: 5493
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1167
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4241
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505751972535084e-5
allele num: 66412
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11522
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: 16466
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10304
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.36e0

MQ
type: SiteQuality
SIO_000300: 5.953e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.24e0

FS
type: SiteQuality
SIO_000300: 3.101e0

QD
type: SiteQuality
SIO_000300: 4.88e0

DP
type: SiteQuality
SIO_000300: 1.647126e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.9e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.95e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.16e0

GenotypeQuality
all individuals: 214
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 359
bin: 3.25e1
variant carriers: 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: 6606
num of homozygotes: 0

South Asian
type: Population
allele count: 7
allele frequency: 4.269333983898512e-4
allele num: 16396
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512721991952319e-5
allele num: 66106
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8568
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.819e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.131e0

MQRankSum
type: SiteQuality
SIO_000300: 4.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.18e-1

DP
type: SiteQuality
SIO_000300: 1.637058e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.63e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.02e-1

QD
type: SiteQuality
SIO_000300: 1.314e1

GenotypeQuality
all individuals: 565
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1816
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1487
bin: 7.25e1
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: 10218
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11444
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: 1
allele frequency: 1.172607879924953e-4
allele num: 8528
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.518695137138171e-5
allele num: 65846
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16346
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

QD
type: SiteQuality
SIO_000300: 9.67e0

FS
type: SiteQuality
SIO_000300: 1.703e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.37e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.3e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.61e-1

DP
type: SiteQuality
SIO_000300: 1.626312e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.35e-1

MQ
type: SiteQuality
SIO_000300: 5.791e1

VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

GenotypeQuality
all individuals: 4246
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 679
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 500
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65688
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10206
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16316
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.175364362952515e-4
allele num: 8508
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 5.958e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.35e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.88e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.971e0

DP
type: SiteQuality
SIO_000300: 1.622734e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

QD
type: SiteQuality
SIO_000300: 1.194e1

GenotypeQuality
all individuals: 208
bin: 4.75e1
variant carriers: 42

GenotypeQuality
all individuals: 561
bin: 8.25e1
variant carriers: 142

GenotypeQuality
all individuals: 22500
bin: 9.75e1
variant carriers: 20217

European (Finnish)
type: Population
allele count: 1707
allele frequency: 2.593436645396536e-1
allele num: 6582
num of homozygotes: 228

South Asian
type: Population
allele count: 4062
allele frequency: 2.489580779602844e-1
allele num: 16316
num of homozygotes: 506

European (Non-Finnish)
type: Population
allele count: 13930
allele frequency: 2.12600347974726e-1
allele num: 65522
num of homozygotes: 1478

Latino
type: Population
allele count: 2512
allele frequency: 2.203895420249166e-1
allele num: 11398
num of homozygotes: 264

Other
type: Population
allele count: 210
allele frequency: 2.333333333333333e-1
allele num: 900
num of homozygotes: 19

African
type: Population
allele count: 732
allele frequency: 7.19481030076666e-2
allele num: 10174
num of homozygotes: 31

East Asian
type: Population
allele count: 473
allele frequency: 5.576514972883754e-2
allele num: 8482
num of homozygotes: 13

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e-1

DP
type: SiteQuality
SIO_000300: 1.940867e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.992e0

MQRankSum
type: SiteQuality
SIO_000300: 3.8e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.18e-2

VQSLOD
type: SiteQuality
SIO_000300: 6.68e0

QD
type: SiteQuality
SIO_000300: 1.599e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

GenotypeQuality
all individuals: 511
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 553
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3452
bin: 9.75e1
variant carriers: 1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11332
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64958
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10138
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8464
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.749e0

FS
type: SiteQuality
SIO_000300: 2.053e0

MQRankSum
type: SiteQuality
SIO_000300: 5.23e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.954e0

VQSLOD
type: SiteQuality
SIO_000300: -1.749e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

DP
type: SiteQuality
SIO_000300: 1.612414e6

QD
type: SiteQuality
SIO_000300: 2.104e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.21e0

GenotypeQuality
all individuals: 805
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5763
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10132
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8458
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6564
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.821453775582216e-5
allele num: 11336
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16166
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.297e1

FS
type: SiteQuality
SIO_000300: 4.269e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.4e0

VQSLOD
type: SiteQuality
SIO_000300: -2.672e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.7e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 3.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.29e-1

DP
type: SiteQuality
SIO_000300: 1.605454e6

GenotypeQuality
all individuals: 5950
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5405
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1305
bin: 7.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11256
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.553229163430773e-5
allele num: 64382
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16046
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8358
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10050
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.95e0

DP
type: SiteQuality
SIO_000300: 1.551155e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.762e1

VQSLOD
type: SiteQuality
SIO_000300: 5.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.26e0

GenotypeQuality
all individuals: 20735
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 531
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3441
bin: 9.75e1
variant carriers: 2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11138
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6518
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9926
num of homozygotes: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.460024600246002e-4
allele num: 8130
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15914
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63324
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.44e0

MQRankSum
type: SiteQuality
SIO_000300: -7.04e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.73e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.07e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

QD
type: SiteQuality
SIO_000300: 1.275e1

FS
type: SiteQuality
SIO_000300: 3.04e0

DP
type: SiteQuality
SIO_000300: 1.394264e6

ClippingRankSum
type: SiteQuality
SIO_000300: -3.5e-1

GenotypeQuality
all individuals: 723
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6861
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 758
bin: 7.25e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.515723270440251e-4
allele num: 7950
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6504
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62458
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15744
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11030
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.938e1

FS
type: SiteQuality
SIO_000300: 3.254e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.27e-1

QD
type: SiteQuality
SIO_000300: 2.684e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: -2.512e0

MQRankSum
type: SiteQuality
SIO_000300: 4.55e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.669e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

DP
type: SiteQuality
SIO_000300: 1.335213e6

GenotypeQuality
all individuals: 5280
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1549
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2874
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5406
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6972
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 680
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5010
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.085157846448976e-5
allele num: 47958
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7716
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.1e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 9.83567e5

BaseQRankSum
type: SiteQuality
SIO_000300: 6.46e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.44e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -1.446e0

QD
type: SiteQuality
SIO_000300: 1.277e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.0e-1

GenotypeQuality
all individuals: 169
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1012
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 363
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1581
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6204
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 800
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11084
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11040
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.736171394840099e-5
allele num: 57598
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7860
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.094e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.622e0

MQRankSum
type: SiteQuality
SIO_000300: 1.03e-1

QD
type: SiteQuality
SIO_000300: 5.5e0

FS
type: SiteQuality
SIO_000300: 3.734e0

DP
type: SiteQuality
SIO_000300: 1.29462e6

VQSLOD
type: SiteQuality
SIO_000300: -2.405e0

MQ
type: SiteQuality
SIO_000300: 5.823e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

GenotypeQuality
all individuals: 362
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 265
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 797
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1580
bin: 9.75e1
variant carriers: 1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6234
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11058
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11290
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8998
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.727056060239715e-5
allele num: 57902
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.901e1

MQRankSum
type: SiteQuality
SIO_000300: 3.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.77e0

FS
type: SiteQuality
SIO_000300: 2.448e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.7e-3

VQSLOD
type: SiteQuality
SIO_000300: -2.267e0

QD
type: SiteQuality
SIO_000300: 1.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.657e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.5e-2

DP
type: SiteQuality
SIO_000300: 1.302268e6

GenotypeQuality
all individuals: 291
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1227
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 360
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 3.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 85
allele frequency: 5.794927733842378e-3
allele num: 14668
num of homozygotes: 1

Other
type: Population
allele count: 2
allele frequency: 2.298850574712644e-3
allele num: 870
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.76242509693338e-4
allele num: 11348
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 2.049600327936052e-4
allele num: 9758
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 53
allele frequency: 8.471867007672634e-4
allele num: 62560
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.116e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.3e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.9e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.51e-1

DP
type: SiteQuality
SIO_000300: 1.399939e6

FS
type: SiteQuality
SIO_000300: 1.194e0

VQSLOD
type: SiteQuality
SIO_000300: 6.23e-1

MQ
type: SiteQuality
SIO_000300: 5.848e1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.0e-1

GenotypeQuality
all individuals: 45376
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1289
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1250
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 5.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.384880602732728e-5
allele num: 15662
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63528
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.49e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.6e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.37e0

QD
type: SiteQuality
SIO_000300: 1.122e1

DP
type: SiteQuality
SIO_000300: 1.42543e6

GenotypeQuality
all individuals: 323
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45044
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1639
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 302
bin: 8.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.572030434509212e-5
allele num: 63612
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15728
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9990
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -2.406e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.861e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.519e0

DP
type: SiteQuality
SIO_000300: 1.42792e6

QD
type: SiteQuality
SIO_000300: 1.435e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -5.71e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.473e1

GenotypeQuality
all individuals: 409
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 428
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1299
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4689
bin: 6.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

South Asian
type: Population
allele count: 6
allele frequency: 3.750468808601075e-4
allele num: 15998
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63854
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.964129135113592e-5
allele num: 10036
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -6.36e-1

QD
type: SiteQuality
SIO_000300: 1.139e1

VQSLOD
type: SiteQuality
SIO_000300: 2.62e-1

DP
type: SiteQuality
SIO_000300: 1.436299e6

FS
type: SiteQuality
SIO_000300: 4.128e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.93e-1

MQ
type: SiteQuality
SIO_000300: 5.933e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.466e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.24e-1

GenotypeQuality
all individuals: 307
bin: 5.75e1
variant carriers: 74

GenotypeQuality
all individuals: 547
bin: 7.75e1
variant carriers: 164

GenotypeQuality
all individuals: 139
bin: 8.75e1
variant carriers: 106

GenotypeQuality
all individuals: 32010
bin: 6.25e1
variant carriers: 125

Other
type: Population
allele count: 209
allele frequency: 2.332589285714286e-1
allele num: 896
num of homozygotes: 19

African
type: Population
allele count: 730
allele frequency: 7.226291823401307e-2
allele num: 10102
num of homozygotes: 29

European (Non-Finnish)
type: Population
allele count: 13871
allele frequency: 2.143364855677112e-1
allele num: 64716
num of homozygotes: 1459

South Asian
type: Population
allele count: 4054
allele frequency: 2.488643339472069e-1
allele num: 16290
num of homozygotes: 503

East Asian
type: Population
allele count: 473
allele frequency: 5.581779561010149e-2
allele num: 8474
num of homozygotes: 13

European (Finnish)
type: Population
allele count: 1699
allele frequency: 2.595478154598228e-1
allele num: 6546
num of homozygotes: 224

Latino
type: Population
allele count: 2485
allele frequency: 2.175625984941341e-1
allele num: 11422
num of homozygotes: 253

DP
type: SiteQuality
SIO_000300: 1.875566e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 5.9e-1

QD
type: SiteQuality
SIO_000300: 1.447e1

MQ
type: SiteQuality
SIO_000300: 5.845e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.674e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.13e-2

FS
type: SiteQuality
SIO_000300: 1.772e0

MQRankSum
type: SiteQuality
SIO_000300: -1.79e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.85e-1

GenotypeQuality
all individuals: 4941
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 650
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1198
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 264
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11440
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.227897838899803e-4
allele num: 16288
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10100
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64490
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8454
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.251e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.266e0

MQRankSum
type: SiteQuality
SIO_000300: 5.2e-1

QD
type: SiteQuality
SIO_000300: 1.158e1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.717836e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.200000000000001e-3

GenotypeQuality
all individuals: 1165
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3160
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4901
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1188
bin: 7.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8448
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.140243153628883e-5
allele num: 16286
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64494
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10100
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.871e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e0

QD
type: SiteQuality
SIO_000300: 1.008e1

DP
type: SiteQuality
SIO_000300: 1.718391e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.67e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.94e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -1.919e0

GenotypeQuality
all individuals: 2865
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 408
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1131
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 627
bin: 8.25e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 1
allele frequency: 1.18427285646613e-4
allele num: 8444
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16272
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64430
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.749e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.341e0

FS
type: SiteQuality
SIO_000300: 8.62e-1

QD
type: SiteQuality
SIO_000300: 2.86e1

DP
type: SiteQuality
SIO_000300: 1.716038e6

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -1.55e0

GenotypeQuality
all individuals: 403
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 962
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 736
bin: 3.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64356
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.153088850603002e-5
allele num: 16252
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.714807e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.87e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.85e-1

QD
type: SiteQuality
SIO_000300: 9.380000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: -2.81e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.389999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.296e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 1102
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2868
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 674
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 921
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.843431240014748e-4
allele num: 16274
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64458
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11428
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10154
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 4.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.148e0

QD
type: SiteQuality
SIO_000300: 1.17e1

MQRankSum
type: SiteQuality
SIO_000300: 7.31e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e0

FS
type: SiteQuality
SIO_000300: 7.97e-1

DP
type: SiteQuality
SIO_000300: 1.715598e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

MQ
type: SiteQuality
SIO_000300: 5.745e1

GenotypeQuality
all individuals: 255
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 417
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2857
bin: 9.75e1
variant carriers: 1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16258
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10144
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.555597038143239e-5
allele num: 64284
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.7e-1

VQSLOD
type: SiteQuality
SIO_000300: -9.923e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQRankSum
type: SiteQuality
SIO_000300: -6.07e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.35e1

MQ
type: SiteQuality
SIO_000300: 5.601e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

DP
type: SiteQuality
SIO_000300: 1.715331e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.28e0

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

GenotypeQuality
all individuals: 4453
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1407
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39111
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64162
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11380
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.881422924901186e-5
allele num: 10120
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16242
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.145e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-1

FS
type: SiteQuality
SIO_000300: 1.242e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.81e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.19e0

VQSLOD
type: SiteQuality
SIO_000300: -2.453e-1

DP
type: SiteQuality
SIO_000300: 1.713465e6

GenotypeQuality
all individuals: 120
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2080
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36859
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 283
bin: 5.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10056
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6502
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11262
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.197891710589363e-4
allele num: 8348
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63290
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15966
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.044e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -3.24e-1

QD
type: SiteQuality
SIO_000300: 1.684e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.717e0

MQ
type: SiteQuality
SIO_000300: 5.691e1

VQSLOD
type: SiteQuality
SIO_000300: -9.647e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.72e-1

DP
type: SiteQuality
SIO_000300: 1.717389e6

GenotypeQuality
all individuals: 1252
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32708
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2870
bin: 9.75e1
variant carriers: 41

GenotypeQuality
all individuals: 236
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 9.405568096313017e-5
allele num: 10632
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.345351809498184e-4
allele num: 14866
num of homozygotes: 0

East Asian
type: Population
allele count: 37
allele frequency: 4.514397266959493e-3
allele num: 8196
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.01440454453236e-4
allele num: 9858
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 59472
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5998
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.2e-3

MQ
type: SiteQuality
SIO_000300: 5.662e1

MQRankSum
type: SiteQuality
SIO_000300: -6.69e-1

QD
type: SiteQuality
SIO_000300: 1.453e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

VQSLOD
type: SiteQuality
SIO_000300: -9.702e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.12e-1

DP
type: SiteQuality
SIO_000300: 1.713022e6

FS
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 347
bin: 4.75e1
variant carriers: 62

GenotypeQuality
all individuals: 180
bin: 8.75e1
variant carriers: 152

GenotypeQuality
all individuals: 502
bin: 5.75e1
variant carriers: 144

GenotypeQuality
all individuals: 429
bin: 7.75e1
variant carriers: 104

East Asian
type: Population
allele count: 461
allele frequency: 5.609637381357994e-2
allele num: 8218
num of homozygotes: 10

South Asian
type: Population
allele count: 4030
allele frequency: 2.507778469197262e-1
allele num: 16070
num of homozygotes: 490

European (Non-Finnish)
type: Population
allele count: 13565
allele frequency: 2.14642868445204e-1
allele num: 63198
num of homozygotes: 1332

African
type: Population
allele count: 724
allele frequency: 7.289569069673782e-2
allele num: 9932
num of homozygotes: 27

Latino
type: Population
allele count: 2425
allele frequency: 2.170605084138919e-1
allele num: 11172
num of homozygotes: 221

Other
type: Population
allele count: 206
allele frequency: 2.335600907029478e-1
allele num: 882
num of homozygotes: 17

European (Finnish)
type: Population
allele count: 1672
allele frequency: 2.578655151141271e-1
allele num: 6484
num of homozygotes: 208

VQSLOD
type: SiteQuality
SIO_000300: 2.85e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.28e-2

QD
type: SiteQuality
SIO_000300: 1.87e1

FS
type: SiteQuality
SIO_000300: 1.134e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.899999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.65e-1

DP
type: SiteQuality
SIO_000300: 1.875044e6

MQ
type: SiteQuality
SIO_000300: 5.698e1

GenotypeQuality
all individuals: 458
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 701
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1112
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4157
bin: 9.75e1
variant carriers: 1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 872
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11028
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15756
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9866
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6428
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.227897838899803e-4
allele num: 8144
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 61850
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.598611e6

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.649e1

QD
type: SiteQuality
SIO_000300: 6.86e0

VQSLOD
type: SiteQuality
SIO_000300: -1.031e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.89e0

MQRankSum
type: SiteQuality
SIO_000300: 5.93e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.1e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.32e-1

GenotypeQuality
all individuals: 674
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 767
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6179
bin: 2.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6090
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
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: 1
allele frequency: 9.622786759045419e-5
allele num: 10392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

QD
type: SiteQuality
SIO_000300: 1.198e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e-1

FS
type: SiteQuality
SIO_000300: 2.795e0

VQSLOD
type: SiteQuality
SIO_000300: 2.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3

MQ
type: SiteQuality
SIO_000300: 5.899e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.27e-1

DP
type: SiteQuality
SIO_000300: 1.598083e6

GenotypeQuality
all individuals: 1008
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 605
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 674
bin: 7.25e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6090
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: 2.886836027713626e-4
allele num: 10392
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 830
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58640
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9728
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

QD
type: SiteQuality
SIO_000300: 1.198e1

DP
type: SiteQuality
SIO_000300: 1.598083e6

FS
type: SiteQuality
SIO_000300: 2.795e0

MQ
type: SiteQuality
SIO_000300: 5.899e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.15e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.5e-3