5-35771713-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771713
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771713
    reference: chr 5
allele count: 1
allele frequency: 8.506149946411256e-6
allele num: 117562
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3789G>A
  hgvsp: ENST00000440995.2:c.3789G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55235C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3804G>A
  hgvsp: ENST00000356031.3:c.3804G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 119
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 564
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6167
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13649
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1458
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1368
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 183
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29767
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 747
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2642
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 272
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5625
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1391
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 600
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2858
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 375
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 478
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 170
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 388
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32034
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1120
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2345
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7002
  bin: 6.75e1
  variant carriers: 0
hgvs: c.3804G>A
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: East Asian
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff

5-35771718-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771718
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771718
    reference: chr 5
allele count: 2
allele frequency: 1.699177598042548e-5
allele num: 117704
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3809C>T
  hgvsp: ENSP00000348314.3:p.Ala1270Val
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3794C>T
  hgvsp: ENSP00000412125.2:p.Ala1265Val
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55230G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 871
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 566
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13933
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29504
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1338
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6266
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1355
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 795
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3404
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 379
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7056
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 462
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1394
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 542
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1749
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2879
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2351
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1125
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5630
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 32057
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ala1270Val
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Latino
reference allele: C
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum

5-35771734-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771734
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771734
    reference: chr 5
allele count: 1
allele frequency: 8.501377223110144e-6
allele num: 117628
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3810G>A
  hgvsp: ENST00000440995.2:c.3810G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55214C>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3825G>A
  hgvsp: ENST00000356031.3:c.3825G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1517
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14424
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28084
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1357
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6417
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 174
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2680
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 872
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30667
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 557
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1395
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2900
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5626
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7099
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3421
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 550
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 670
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 295
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg1275Arg
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

5-35771738-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771738
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771738
    reference: chr 5
allele count: 32
allele frequency: 2.720394457196294e-4
allele num: 117630
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3829A>G
  hgvsp: ENSP00000348314.3:p.Met1277Val
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3814A>G
  hgvsp: ENSP00000412125.2:p.Met1272Val
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55210T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1512
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 14485
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2686
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 1358
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27785
  bin: 2.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6435
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1318
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 511
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1974
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2926
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2358
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 715
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7125
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 312
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 378
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1130
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3428
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5654
  bin: 9.75e1
  variant carriers: 32
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Met1277Val
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: African
reference allele: A
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum

5-35771739-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771739
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771739
    reference: chr 5
allele count: 1
allele frequency: 8.501666326600013e-6
allele num: 117624
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3815T>C
  hgvsp: ENSP00000412125.2:p.Met1272Thr
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55209A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3830T>C
  hgvsp: ENSP00000348314.3:p.Met1277Thr
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14540
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2685
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1315
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 272
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1361
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1547
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 873
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6436
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27771
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1982
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1396
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7115
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1131
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 500
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 719
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30697
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 319
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3422
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2360
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 581
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 574
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Met1277Thr
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

5-35771752-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771752
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771752
    reference: chr 5
allele count: 1
allele frequency: 8.508610714042611e-6
allele num: 117528
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3843A>G
  hgvsp: ENST00000356031.3:c.3843A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3828A>G
  hgvsp: ENST00000440995.2:c.3828A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55196T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2005
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1340
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1381
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1654
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 876
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 211
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6529
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 205
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2913
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3464
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 430
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5645
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 613
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2022
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7160
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 857
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2365
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 779
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29763
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys1281Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
population: Latino
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD

5-35771754-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771754
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771754
    reference: chr 5
allele count: 1
allele frequency: 8.513246611727849e-6
allele num: 117464
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55194T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3845A>G
  hgvsp: ENSP00000348314.3:p.Glu1282Gly
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3830A>G
  hgvsp: ENSP00000412125.2:p.Glu1277Gly
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2739
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1347
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2176
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1396
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26438
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 574
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14717
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3469
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5675
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 726
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2925
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28957
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2379
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 691
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2011
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 853
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 458
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7153
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Glu1282Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-35771770-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771770
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771770
    reference: chr 5
allele count: 2
allele frequency: 1.702968273701061e-5
allele num: 117442
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3846C>A
  hgvsp: ENSP00000412125.2:p.Asp1282Glu
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3861C>A
  hgvsp: ENSP00000348314.3:p.Asp1287Glu
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55178G>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6774
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25318
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1437
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 901
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15230
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1672
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2422
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2812
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 538
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3013
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7210
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 277
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 955
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 662
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1160
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 773
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1950
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28578
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2426
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 911
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3534
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1426
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5725
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Asp1287Glu
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

5-35771771-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771771
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771771
    reference: chr 5
allele count: 11
allele frequency: 9.368080395162664e-5
allele num: 117420
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3862C>T
  hgvsp: ENSP00000348314.3:p.Pro1288Ser
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55177G>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3847C>T
  hgvsp: ENSP00000412125.2:p.Pro1283Ser
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 256
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2821
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15215
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2397
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 587
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25339
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6781
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1442
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1670
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 285
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1161
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 714
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1934
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2427
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 328
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 623
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1428
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5738
  bin: 9.75e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 3016
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7215
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3539
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 770
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28545
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro1288Ser
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

5-35771773-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771773
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771773
    reference: chr 5
allele count: 268
allele frequency: 2.282366166476469e-3
allele num: 117422
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3864C>T
  hgvsp: ENST00000356031.3:c.3864C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3849C>T
  hgvsp: ENST00000440995.2:c.3849C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55175G>A
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 4.75e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 25189
  bin: 2.25e1
  variant carriers: 29
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 1.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 8.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 15180
  bin: 2.75e1
  variant carriers: 26
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 9.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 152
  bin: 7.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1307
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2376
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2867
  bin: 3.75e1
  variant carriers: 45
genotype depth: GenotypeDepth
  all individuals: 6867
  bin: 3.25e1
  variant carriers: 56
genotype depth: GenotypeDepth
  all individuals: 123
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1475
  bin: 4.25e1
  variant carriers: 30
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 6.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 578
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2432
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3558
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 889
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 937
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7195
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3005
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1910
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1158
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5967
  bin: 9.75e1
  variant carriers: 266
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28525
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Pro1288Pro
num of homozygotes: 1
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

5-35771774-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771774
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771774
    reference: chr 5
allele count: 5
allele frequency: 4.25684074307412e-5
allele num: 117458
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55174T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3865A>G
  hgvsp: ENSP00000348314.3:p.Lys1289Glu
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3850A>G
  hgvsp: ENSP00000412125.2:p.Lys1284Glu
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 260
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 125
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2365
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25239
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6840
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 915
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15221
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1463
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1648
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2849
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1169
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 690
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1917
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 931
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3041
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 865
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2454
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 674
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 282
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28697
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5776
  bin: 9.75e1
  variant carriers: 5
hgvs: p.Lys1289Glu
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: East Asian
population: African
reference allele: A
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

5-35771775-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771775
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771775
    reference: chr 5
allele count: 39
allele frequency: 3.320392317123008e-4
allele num: 117456
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3866A>G
  hgvsp: ENSP00000348314.3:p.Lys1289Arg
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55173T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3851A>G
  hgvsp: ENSP00000412125.2:p.Lys1284Arg
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2364
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1309
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6856
  bin: 3.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 261
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15199
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 25235
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1471
  bin: 4.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3049
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28660
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3607
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7267
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 283
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1913
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 495
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5811
  bin: 9.75e1
  variant carriers: 39
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Lys1289Arg
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum

http://identifiers.org/exac.variant/5-35771782-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771782
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771782
    reference: chr 5
allele count: 1
allele frequency: 8.515711487694797e-6
allele num: 117430
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3873A>C
  hgvsp: ENSP00000348314.3:p.Lys1291Asn
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55166T>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3858A>C
  hgvsp: ENSP00000412125.2:p.Lys1286Asn
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15193
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2409
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1319
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 919
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1482
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1608
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25130
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27730
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1881
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 918
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2474
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3090
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1444
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1171
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 876
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 671
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7273
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5797
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 537
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys1291Asn
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: African
population: Other
population: South Asian
population: European (Finnish)
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP
site quality: MQ

5-35771783-TCTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771783
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771780
    reference: chr 5
allele count: 2
allele frequency: 1.703316356946976e-5
allele num: 117418
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55162_173+55164delGAG
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3863_3865delCTC
  hgvsp: ENSP00000412125.2:p.Pro1288del
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3878_3880delCTC
  hgvsp: ENSP00000348314.3:p.Pro1293del
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2374
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1313
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 264
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15254
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6954
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 591
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25083
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 377
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1486
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1605
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 918
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 859
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1173
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 812
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 873
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3084
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7270
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2474
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1884
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 115
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5800
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1442
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 909
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27932
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Pro1293del
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: Other
population: East Asian
reference allele: TCTC
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum

5-35771789-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771789
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771789
    reference: chr 5
allele count: 1
allele frequency: 8.518032675173342e-6
allele num: 117398
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55159G>A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3865C>T
  hgvsp: ENSP00000412125.2:p.Gln1289Ter
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3880C>T
  hgvsp: ENSP00000348314.3:p.Gln1294Ter
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 923
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1302
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7096
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1541
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15466
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1491
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 854
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1448
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 887
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 160
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7310
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27620
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 816
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 528
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3106
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3652
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 595
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5804
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Gln1294Ter
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD

5-35771793-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771793
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771793
    reference: chr 5
allele count: 1
allele frequency: 8.511072905850511e-6
allele num: 117494
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3884T>C
  hgvsp: ENSP00000348314.3:p.Met1295Thr
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3869T>C
  hgvsp: ENSP00000412125.2:p.Met1290Thr
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55155A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15570
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7140
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25028
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2025
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2899
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 593
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1282
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1487
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 280
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5810
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 641
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 454
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 278
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 767
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1454
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 602
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1809
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3704
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3144
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 260
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7441
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28608
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1184
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met1295Thr
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: T
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD

5-35771803-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771803
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771803
    reference: chr 5
allele count: 3
allele frequency: 2.551280742932953e-5
allele num: 117588
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3879T>C
  hgvsp: ENST00000440995.2:c.3879T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55145A>G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3894T>C
  hgvsp: ENST00000356031.3:c.3894T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1473
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7443
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1520
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25133
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 258
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 924
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15872
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7610
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29201
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 607
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1467
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 263
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5830
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2601
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3826
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1684
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3207
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Asn1298Asn
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD

5-35771807-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771807
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771807
    reference: chr 5
allele count: 1
allele frequency: 8.498776176230622e-6
allele num: 117664
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55141T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3883A>G
  hgvsp: ENSP00000412125.2:p.Lys1295Glu
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3898A>G
  hgvsp: ENSP00000348314.3:p.Lys1300Glu
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2956
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 127
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25103
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1258
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7468
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1399
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15986
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 922
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1523
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 233
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1471
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7657
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 632
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 609
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 249
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3251
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2617
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29023
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 491
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1213
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Lys1300Glu
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
population: European (Finnish)
population: South Asian
population: African
reference allele: A
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

5-35771826-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771826
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771826
    reference: chr 5
allele count: 2
allele frequency: 1.695432504831983e-5
allele num: 117964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3902C>T
  hgvsp: ENSP00000412125.2:p.Pro1301Leu
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55122G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3917C>T
  hgvsp: ENSP00000348314.3:p.Pro1306Leu
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 927
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 801
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25404
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7813
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1552
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1121
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16539
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1253
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4022
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 275
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1502
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 271
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 347
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1450
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 231
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3360
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30255
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro1306Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

5-35771830-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771830
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771829
    reference: chr 5
allele count: 1
allele frequency: 8.475294516484449e-6
allele num: 117990
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3927delA
  hgvsp: ENSP00000348314.3:p.Lys1309AsnfsTer21
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55117delT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3912delA
  hgvsp: ENSP00000412125.2:p.Lys1304AsnfsTer21
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1095
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3067
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 594
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16655
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7899
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25283
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1554
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5868
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 252
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 2.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 29897
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1508
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 368
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2742
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 262
  bin: 2.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3368
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genotype quality: GenotypeQuality
  all individuals: 4047
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 270
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7905
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Lys1309AsnfsTer21
num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: GA
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/5-35771836-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771836
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771836
    reference: chr 5
allele count: 8
allele frequency: 6.771282988844311e-5
allele num: 118146
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3912A>C
  hgvsp: ENSP00000412125.2:p.Lys1304Asn
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3927A>C
  hgvsp: ENSP00000348314.3:p.Lys1309Asn
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55112T>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7882
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4064
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1513
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5876
  bin: 9.75e1
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7984
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30715
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2752
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys1309Asn
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
population: Latino
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ

5-35771836-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771836
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771836
    reference: chr 5
allele count: 1
allele frequency: 8.464103736055389e-6
allele num: 118146
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3927A>G
  hgvsp: ENST00000356031.3:c.3927A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3912A>G
  hgvsp: ENST00000440995.2:c.3912A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55112T>C
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16746
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3073
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 447
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 254
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1032
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 647
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25549
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7882
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7984
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3386
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 214
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4064
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5876
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1266
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2752
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30715
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys1309Lys
num of homozygotes: 0
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD

5-35771843-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771843
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771843
    reference: chr 5
allele count: 1
allele frequency: 8.460380040271409e-6
allele num: 118198
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3919G>C
  hgvsp: ENSP00000412125.2:p.Asp1307His
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3934G>C
  hgvsp: ENSP00000348314.3:p.Asp1312His
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55105C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16792
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 603
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3083
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2765
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 201
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7983
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 197
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 261
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30893
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5875
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3408
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1271
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp1312His
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: European (Finnish)
population: South Asian
population: Latino
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: DP

5-35771846-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771846
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771846
    reference: chr 5
allele count: 2
allele frequency: 1.693136026548373e-5
allele num: 118124
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3922A>G
  hgvsp: ENSP00000412125.2:p.Lys1308Glu
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3937A>G
  hgvsp: ENSP00000348314.3:p.Lys1313Glu
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55102T>C
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16780
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 598
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 989
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 214
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7981
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3101
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25435
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 149
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1283
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5875
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 161
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2773
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7929
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30672
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1272
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4086
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3398
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys1313Glu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP

5-35771879-C-CAG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771879
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771881
    reference: chr 5
allele count: 1
allele frequency: 8.564870327863236e-6
allele num: 116756
alternate allele: CAG
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3934+23_3934+24dupGA
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55067_173+55068dupCT
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3949+23_3949+24dupGA
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 1407
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1566
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 507
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16071
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2718
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7897
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 464
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27603
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 501
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5883
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2795
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3399
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4097
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 713
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7778
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
population: European (Non-Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

5-35771886-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771886
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771885
    reference: chr 5
allele count: 2
allele frequency: 1.717357330539766e-5
allele num: 116458
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3934+29delT
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3949+29delT
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55061delA
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1502
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3099
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15921
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1395
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 557
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 22196
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3053
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26840
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1515
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7748
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 592
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 835
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5883
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2972
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 988
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3395
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4094
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
reference allele: CT
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD

5-35771890-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771890
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771890
    reference: chr 5
allele count: 1
allele frequency: 8.596382642184169e-6
allele num: 116328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3934+32A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55058T>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3949+32A>G
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 583
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1660
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21852
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1558
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3094
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15837
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 582
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 237
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7736
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2795
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2969
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4104
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 701
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3388
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5883
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1097
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26426
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP

5-35771891-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771891
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771891
    reference: chr 5
allele count: 1
allele frequency: 8.601262665359275e-6
allele num: 116262
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3934+33T>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3949+33T>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55057A>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1856
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21656
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7862
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1568
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15809
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3093
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 933
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5884
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2921
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7721
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26117
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4102
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 902
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 599
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3390
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-35771892-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771892
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771892
    reference: chr 5
allele count: 3
allele frequency: 2.581444576384945e-5
allele num: 116214
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55056C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3949+34G>A
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3934+34G>A
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 935
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1850
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 595
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1570
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3097
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7877
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1567
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3166
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15816
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21620
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4101
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3389
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 903
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 606
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26152
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2946
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 229
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1517
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5886
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1275
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7708
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff

5-35771894-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771894
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771894
    reference: chr 5
allele count: 1
allele frequency: 8.615787569141696e-6
allele num: 116066
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3934+36C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55054G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3949+36C>T
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1563
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21303
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1603
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 934
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 601
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 596
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15759
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2147
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3197
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3100
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 385
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7877
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 934
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1236
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 627
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2919
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5885
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 845
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25661
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 203
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7685
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3387
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1516
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2792
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4093
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1276
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum

5-35771908-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771908
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771908
    reference: chr 5
allele count: 1
allele frequency: 8.730269590724962e-6
allele num: 114544
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55040G>A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3949+50C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3934+50C>T
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 282
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20836
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2676
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2082
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2876
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7942
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1573
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 941
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15395
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1672
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 469
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1520
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7544
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 633
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21637
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2025
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5895
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2797
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1341
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3370
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
reference allele: C
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum

5-35771909-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35771909
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35771909
    reference: chr 5
allele count: 8
allele frequency: 6.981168298514756e-5
allele num: 114594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3934+51G>A
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+55039C>T
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3949+51G>A
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2892
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7979
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2085
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3131
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2658
  bin: 1.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 15429
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1579
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 386
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 102
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20749
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 940
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 283
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 8
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 529
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7544
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

5-35773948-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35773948
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35773948
    reference: chr 5
allele count: 1
allele frequency: 8.711408460519897e-6
allele num: 114792
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3935-47C>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+53000G>C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3950-47C>G
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 5583
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3055
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13521
  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 438
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1326
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 482
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2025
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP

5-35773958-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35773958
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35773958
    reference: chr 5
allele count: 1
allele frequency: 8.682364381468362e-6
allele num: 115176
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52990A>G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3950-37T>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3935-37T>C
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12098
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1203
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14108
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2835
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1756
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3055
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 267
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3067
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2477
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1802
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13557
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1831
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 893
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2090
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13365
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/5-35773972-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35773972
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35773972
    reference: chr 5
allele count: 2
allele frequency: 1.726638580012432e-5
allele num: 115832
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3950-23A>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3935-23A>C
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52976T>G
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12843
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16689
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16403
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 299
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genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 273
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4311
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4923
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Latino
population: African
population: Other
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: ClippingRankSum

5-35773972-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35773972
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35773972
    reference: chr 5
allele count: 10
allele frequency: 8.633192900062159e-5
allele num: 115832
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52976T>C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3935-23A>G
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3950-23A>G
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5686
  bin: 3.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9849
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 921
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12843
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2566
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16689
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2244
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 179
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3071
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 274
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
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genotype quality: GenotypeQuality
  all individuals: 175
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4923
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 4311
  bin: 8.25e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: East Asian
population: Other
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum

5-35773986-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35773986
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35773986
    reference: chr 5
allele count: 1
allele frequency: 8.535481998668465e-6
allele num: 117158
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3935-9C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3950-9C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52962G>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1760
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1204
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 203
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 4.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: ReadPosRankSum

5-35774000-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774000
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774000
    reference: chr 5
allele count: 3
allele frequency: 2.53173102889549e-5
allele num: 118496
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3940T>A
  hgvsp: ENSP00000412125.2:p.Ser1314Thr
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52948A>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3955T>A
  hgvsp: ENSP00000348314.3:p.Ser1319Thr
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5774
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10399
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14140
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18519
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3105
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1768
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4470
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13680
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2226
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 234
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 125
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19094
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6507
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3193
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 177
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser1319Thr
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
population: Latino
reference allele: T
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum

5-35774006-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774006
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774006
    reference: chr 5
allele count: 2
allele frequency: 1.682057492725101e-5
allele num: 118902
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3946C>T
  hgvsp: ENSP00000412125.2:p.Pro1316Ser
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52942G>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3961C>T
  hgvsp: ENSP00000348314.3:p.Pro1321Ser
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5794
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10506
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1205
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18518
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14463
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3111
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 467
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 133
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3542
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19472
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6587
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5191
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 218
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4491
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13691
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 3201
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Pro1321Ser
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: African
population: Other
population: South Asian
reference allele: C
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ

http://identifiers.org/exac.variant/5-35774009-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774009
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774009
    reference: chr 5
allele count: 1
allele frequency: 8.397715821296607e-6
allele num: 119080
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3949A>C
  hgvsp: ENSP00000412125.2:p.Met1317Leu
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52939T>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3964A>C
  hgvsp: ENSP00000348314.3:p.Met1322Leu
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14568
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3206
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Met1322Leu
num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP

5-35774009-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774009
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774009
    reference: chr 5
allele count: 1
allele frequency: 8.397715821296607e-6
allele num: 119080
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3964A>G
  hgvsp: ENSP00000348314.3:p.Met1322Val
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52939T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3949A>G
  hgvsp: ENSP00000412125.2:p.Met1317Val
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1771
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1206
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10539
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5790
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 756
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14568
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3114
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18551
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5206
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 827
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 140
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3206
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4505
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3555
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6620
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13695
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Met1322Val
num of homozygotes: 0
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/5-35774019-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774019
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774019
    reference: chr 5
allele count: 2
allele frequency: 1.675827858962328e-5
allele num: 119344
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52929G>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3959C>A
  hgvsp: ENSP00000412125.2:p.Ala1320Glu
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3974C>A
  hgvsp: ENSP00000348314.3:p.Ala1325Glu
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18426
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5820
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 636
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1772
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3125
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 300
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 209
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1207
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 652
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10637
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19644
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 686
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6649
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5224
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3209
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13700
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 145
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4524
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Ala1325Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: C
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD

5-35774020-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774020
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774020
    reference: chr 5
allele count: 1
allele frequency: 8.376612497905846e-6
allele num: 119380
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52928T>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3960A>T
  hgvsp: ENST00000440995.2:c.3960A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3975A>T
  hgvsp: ENST00000356031.3:c.3975A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18449
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14822
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 826
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3121
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10626
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5816
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4527
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 682
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6672
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19773
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5220
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3215
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3585
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Ala1325Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum

5-35774026-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774026
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774026
    reference: chr 5
allele count: 1
allele frequency: 8.368480953337351e-6
allele num: 119496
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3966T>A
  hgvsp: ENST00000440995.2:c.3966T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52922A>T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3981T>A
  hgvsp: ENST00000356031.3:c.3981T>A(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5824
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18407
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3128
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10684
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14908
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6689
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3602
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13706
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5228
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19853
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2244
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4536
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3221
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Pro1327Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
population: African
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

5-35774031-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774031
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774031
    reference: chr 5
allele count: 1
allele frequency: 8.363861427543869e-6
allele num: 119562
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3971T>C
  hgvsp: ENSP00000412125.2:p.Ile1324Thr
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52917A>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3986T>C
  hgvsp: ENSP00000348314.3:p.Ile1329Thr
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10724
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18341
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3129
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5827
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 14977
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 584
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2249
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4543
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19869
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3224
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13709
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5243
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6717
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ile1329Thr
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

5-35774033-G-GT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774033
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774034
    reference: chr 5
allele count: 1
allele frequency: 8.362602441879913e-6
allele num: 119580
alternate allele: GT
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3989dupT
  hgvsp: ENSP00000348314.3:p.Thr1331AsnfsTer7
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52914dupA
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3974dupT
  hgvsp: ENSP00000412125.2:p.Thr1326AsnfsTer7
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15014
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4547
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5249
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13711
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6723
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Thr1331AsnfsTer7
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum

5-35774033-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774033
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774033
    reference: chr 5
allele count: 1
allele frequency: 8.362602441879913e-6
allele num: 119580
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52915C>A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3988G>T
  hgvsp: ENSP00000348314.3:p.Val1330Leu
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3973G>T
  hgvsp: ENSP00000412125.2:p.Val1325Leu
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 274
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18300
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10733
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5836
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15014
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19825
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13711
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 575
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3225
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6723
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2248
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 113
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3606
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5249
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Val1330Leu
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff

5-35774037-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774037
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774037
    reference: chr 5
allele count: 3
allele frequency: 2.507857954925433e-5
allele num: 119624
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3977C>T
  hgvsp: ENSP00000412125.2:p.Thr1326Ile
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3992C>T
  hgvsp: ENSP00000348314.3:p.Thr1331Ile
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52911G>A
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5841
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18282
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 225
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15042
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10747
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6722
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 565
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4547
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19880
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3227
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13712
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 5255
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2252
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr1331Ile
num of homozygotes: 1
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum

5-35774039-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774039
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774039
    reference: chr 5
allele count: 2
allele frequency: 1.671765551599044e-5
allele num: 119634
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52909T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3994A>G
  hgvsp: ENSP00000348314.3:p.Thr1332Ala
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3979A>G
  hgvsp: ENSP00000412125.2:p.Thr1327Ala
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 18276
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1774
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 653
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5842
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10755
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15041
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3617
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4551
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 569
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6721
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19884
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5259
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2253
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Thr1332Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Latino
population: Other
population: African
reference allele: A
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

5-35774043-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774043
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774043
    reference: chr 5
allele count: 1
allele frequency: 8.357151214294072e-6
allele num: 119658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3983A>G
  hgvsp: ENSP00000412125.2:p.Glu1328Gly
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52905T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.3998A>G
  hgvsp: ENSP00000348314.3:p.Glu1333Gly
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3138
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 492
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15060
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1208
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5845
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 191
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10766
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13718
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19864
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4556
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5264
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3228
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6742
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu1333Gly
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

5-35774046-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774046
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774046
    reference: chr 5
allele count: 1
allele frequency: 8.357151214294072e-6
allele num: 119658
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3986A>G
  hgvsp: ENSP00000412125.2:p.Glu1329Gly
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52902T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4001A>G
  hgvsp: ENSP00000348314.3:p.Glu1334Gly
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 60
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 490
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18181
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3141
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5848
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15080
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13720
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 554
  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 3625
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4560
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19646
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5276
  bin: 7.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 3229
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu1334Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ClippingRankSum

5-35774049-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774049
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774049
    reference: chr 5
allele count: 1
allele frequency: 8.356033892073466e-6
allele num: 119674
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4004T>C
  hgvsp: ENSP00000348314.3:p.Ile1335Thr
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.3989T>C
  hgvsp: ENSP00000412125.2:p.Ile1330Thr
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52899A>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 202
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3142
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1775
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15092
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10783
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5850
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18184
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 828
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 103
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6736
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3623
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.75e1
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genotype quality: GenotypeQuality
  all individuals: 96
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genotype quality: GenotypeQuality
  all individuals: 79
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 554
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genotype quality: GenotypeQuality
  all individuals: 13720
  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 19799
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5278
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ile1335Thr
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

5-35774064-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774064
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774064
    reference: chr 5
allele count: 1
allele frequency: 8.35282325425994e-6
allele num: 119720
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.4004G>C
  hgvsp: ENSP00000412125.2:p.Arg1335Thr
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4019G>C
  hgvsp: ENSP00000348314.3:p.Arg1340Thr
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52884C>G
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15187
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 462
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1210
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10846
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
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genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
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genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 4581
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 3661
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 555
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 13729
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genotype quality: GenotypeQuality
  all individuals: 52
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genotype quality: GenotypeQuality
  all individuals: 19800
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genotype quality: GenotypeQuality
  all individuals: 6760
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3232
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg1340Thr
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: South Asian
reference allele: G
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: QD

5-35774065-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774065
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774065
    reference: chr 5
allele count: 2
allele frequency: 1.670732114812711e-5
allele num: 119708
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.4005G>C
  hgvsp: ENSP00000412125.2:p.Arg1335Ser
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52883C>G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4020G>C
  hgvsp: ENSP00000348314.3:p.Arg1340Ser
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 103
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13732
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3233
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3660
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19781
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg1340Ser
num of homozygotes: 0
population: East Asian
population: Other
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD

5-35774065-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774065
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774064
    reference: chr 5
allele count: 1
allele frequency: 8.353660574063554e-6
allele num: 119708
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52882delT
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.4010delA
  hgvsp: ENSP00000412125.2:p.Asn1337MetfsTer3
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4025delA
  hgvsp: ENSP00000348314.3:p.Asn1342MetfsTer3
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18055
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15176
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 654
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10865
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4580
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13732
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5301
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3660
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6756
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19781
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 552
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3233
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Asn1342MetfsTer3
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
population: Other
population: African
reference allele: GA
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum

5-35774067-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774067
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774067
    reference: chr 5
allele count: 2
allele frequency: 1.670592559180741e-5
allele num: 119718
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52881T>C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4022A>G
  hgvsp: ENSP00000348314.3:p.Lys1341Arg
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.4007A>G
  hgvsp: ENSP00000412125.2:p.Lys1336Arg
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3158
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10861
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 458
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5874
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15172
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1777
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18072
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5303
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 555
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2264
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19822
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3234
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13732
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4583
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6764
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3663
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Lys1341Arg
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
population: European (Finnish)
population: Latino
reference allele: A
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

5-35774068-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774068
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774068
    reference: chr 5
allele count: 1
allele frequency: 8.352404657300837e-6
allele num: 119726
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4023A>G
  hgvsp: ENST00000356031.3:c.4023A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52880T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.4008A>G
  hgvsp: ENST00000440995.2:c.4008A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 827
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1209
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3159
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15170
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18064
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5871
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1776
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 363
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 459
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 273
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 180
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10864
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4584
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3235
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5308
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 562
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19791
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3666
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13733
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys1341Lys
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

5-35774079-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774079
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774079
    reference: chr 5
allele count: 504
allele frequency: 4.2111595728681e-3
allele num: 119682
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52869C>A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.4019G>T
  hgvsp: ENSP00000412125.2:p.Arg1340Met
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4034G>T
  hgvsp: ENSP00000348314.3:p.Arg1345Met
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 32
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 3162
  bin: 4.25e1
  variant carriers: 35
genotype depth: GenotypeDepth
  all individuals: 531
  bin: 6.75e1
  variant carriers: 39
genotype depth: GenotypeDepth
  all individuals: 17862
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 1.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 8.75e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 1779
  bin: 4.75e1
  variant carriers: 40
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5846
  bin: 3.75e1
  variant carriers: 25
genotype depth: GenotypeDepth
  all individuals: 15142
  bin: 2.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 7.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 10812
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 8.25e1
  variant carriers: 24
genotype depth: GenotypeDepth
  all individuals: 866
  bin: 5.75e1
  variant carriers: 44
genotype depth: GenotypeDepth
  all individuals: 1227
  bin: 5.25e1
  variant carriers: 37
genotype depth: GenotypeDepth
  all individuals: 442
  bin: 9.75e1
  variant carriers: 82
genotype depth: GenotypeDepth
  all individuals: 685
  bin: 6.25e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3646
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19656
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 583
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6738
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4559
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5276
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2251
  bin: 8.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14042
  bin: 9.75e1
  variant carriers: 487
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Arg1345Met
num of homozygotes: 12
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: African
reference allele: G
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum

5-35774090-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774090
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774090
    reference: chr 5
allele count: 1
allele frequency: 8.360644772924887e-6
allele num: 119608
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4045A>G
  hgvsp: ENSP00000348314.3:p.Lys1349Glu
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52858T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.4030A>G
  hgvsp: ENSP00000412125.2:p.Lys1344Glu
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10881
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5306
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13916
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3672
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6765
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19597
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Lys1349Glu
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
population: East Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

5-35774090-AAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774090
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774087
    reference: chr 5
allele count: 2
allele frequency: 1.672128954584977e-5
allele num: 119608
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4051_4053delGAA
  hgvsp: ENSP00000348314.3:p.Glu1351del
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.4036_4038delGAA
  hgvsp: ENSP00000412125.2:p.Glu1346del
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52855_173+52857delCTT
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15145
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5854
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 510
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17756
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10881
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19597
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3672
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5306
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6765
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13916
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Glu1351del
num of homozygotes: 0
population: South Asian
population: Other
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: AAAG
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ

5-35774093-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774093
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774093
    reference: chr 5
allele count: 3
allele frequency: 2.508780732563974e-5
allele num: 119580
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.4033G>A
  hgvsp: ENSP00000412125.2:p.Glu1345Lys
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52855C>T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4048G>A
  hgvsp: ENSP00000348314.3:p.Glu1350Lys
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1235
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 84
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 112
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15144
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10886
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1791
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19585
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3673
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5305
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6767
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 675
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13915
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 4586
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Glu1350Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD

5-35774096-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774096
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774096
    reference: chr 5
allele count: 1
allele frequency: 8.36638053645232e-6
allele num: 119526
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4051G>A
  hgvsp: ENSP00000348314.3:p.Glu1351Lys
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52852C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.4036G>A
  hgvsp: ENSP00000412125.2:p.Glu1346Lys
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426624
  ensembl transcript: ENST00000506526
  gene symbol: SPEF2
  hgvsc: ENST00000506526.1:c.3G>A
  hgvsp: ENSP00000426624.1:p.Glu2Lys
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15138
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19524
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3672
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Glu1351Lys
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

5-35774096-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774096
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774096
    reference: chr 5
allele count: 1
allele frequency: 8.36638053645232e-6
allele num: 119526
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426624
  ensembl transcript: ENST00000506526
  gene symbol: SPEF2
  hgvsc: ENST00000506526.1:c.3G>C
  hgvsp: ENSP00000426624.1:p.Glu2Gln
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52852C>G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.4036G>C
  hgvsp: ENSP00000412125.2:p.Glu1346Gln
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4051G>C
  hgvsp: ENSP00000348314.3:p.Glu1351Gln
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15138
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1793
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 692
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17668
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 543
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10888
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 116
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3246
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6762
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4588
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13917
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19524
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu1351Gln
num of homozygotes: 0
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: African
population: Latino
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

5-35774110-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774110
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774110
    reference: chr 5
allele count: 1
allele frequency: 8.386306838194597e-6
allele num: 119242
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52838G>A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.4050C>T
  hgvsp: ENST00000440995.2:c.4050C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426624
  ensembl transcript: ENST00000506526
  gene symbol: SPEF2
  hgvsc: ENST00000506526.1:c.17C>T
  hgvsp: ENST00000506526.1:c.17C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4065C>T
  hgvsp: ENST00000356031.3:c.4065C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1794
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 17296
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10893
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 128
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15136
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3187
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 514
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 877
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 523
  bin: 6.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19171
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6731
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4585
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 965
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3658
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ala1355Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum

5-35774115-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774115
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774115
    reference: chr 5
allele count: 2
allele frequency: 1.679232926399221e-5
allele num: 119102
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52833T>C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426624
  ensembl transcript: ENST00000506526
  gene symbol: SPEF2
  hgvsc: ENST00000506526.1:c.22A>G
  hgvsp: ENSP00000426624.1:p.Gln8Arg
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.4055A>G
  hgvsp: ENSP00000412125.2:p.Gln1352Arg
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4070A>G
  hgvsp: ENSP00000348314.3:p.Gln1357Arg
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 651
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 736
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15120
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 880
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 17080
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1795
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10878
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3652
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3248
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13926
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5296
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln1357Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: A
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

5-35774116-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774116
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774116
    reference: chr 5
allele count: 3
allele frequency: 2.521559332291089e-5
allele num: 118974
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52832T>C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.4056A>G
  hgvsp: ENST00000440995.2:c.4056A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426624
  ensembl transcript: ENST00000506526
  gene symbol: SPEF2
  hgvsc: ENST00000506526.1:c.23A>G
  hgvsp: ENST00000506526.1:c.23A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4071A>G
  hgvsp: ENST00000356031.3:c.4071A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 522
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16948
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 790
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 115
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10876
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15039
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 776
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1236
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1229
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4579
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 183
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5294
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6675
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13928
  bin: 9.75e1
  variant carriers: 3
hgvs: p.Gln1357Gln
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: Other
reference allele: A
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

5-35774118-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774118
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774118
    reference: chr 5
allele count: 1
allele frequency: 8.409438754057554e-6
allele num: 118914
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426624
  ensembl transcript: ENST00000506526
  gene symbol: SPEF2
  hgvsc: ENST00000506526.1:c.25T>A
  hgvsp: ENSP00000426624.1:p.Phe9Tyr
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.4058T>A
  hgvsp: ENSP00000412125.2:p.Phe1353Tyr
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4073T>A
  hgvsp: ENSP00000348314.3:p.Phe1358Tyr
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52830A>T
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 834
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16875
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10860
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 693
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5864
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 817
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15024
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1237
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5291
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3247
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6671
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 213
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13929
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1282
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4579
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 121
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18677
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Phe1358Tyr
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP

5-35774120-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774120
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774120
    reference: chr 5
allele count: 5
allele frequency: 4.212441868302218e-5
allele num: 118696
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52828C>T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.4060G>A
  hgvsp: ENSP00000412125.2:p.Glu1354Lys
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4075G>A
  hgvsp: ENSP00000348314.3:p.Glu1359Lys
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426624
  ensembl transcript: ENST00000506526
  gene symbol: SPEF2
  hgvsc: ENST00000506526.1:c.27G>A
  hgvsp: ENSP00000426624.1:p.Glu10Lys
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1006
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10857
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 270
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 16633
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14935
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 878
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 905
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1238
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 257
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3647
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1464
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 258
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4579
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 13934
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 18279
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6641
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Glu1359Lys
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD

5-35774128-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774128
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774128
    reference: chr 5
allele count: 2
allele frequency: 1.693164694129798e-5
allele num: 118122
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52820G>A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426624
  ensembl transcript: ENST00000506526
  gene symbol: SPEF2
  hgvsc: ENST00000506526.1:c.30+5C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.4063+5C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4078+5C>T
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14609
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3186
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10830
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1114
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1759
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5870
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 478
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2254
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13935
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 434
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 166
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17003
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 72
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genotype quality: GenotypeQuality
  all individuals: 2065
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genotype quality: GenotypeQuality
  all individuals: 205
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3628
  bin: 7.25e1
  variant carriers: 0
hgvs: c.4078+5C>T
num of homozygotes: 0
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

5-35774129-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774129
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774129
    reference: chr 5
allele count: 2
allele frequency: 1.692792091275349e-5
allele num: 118148
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4078+6G>A
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.4063+6G>A
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426624
  ensembl transcript: ENST00000506526
  gene symbol: SPEF2
  hgvsc: ENST00000506526.1:c.30+6G>A
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52819C>T
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15779
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1797
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5865
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1127
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1773
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10796
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
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genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6499
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13937
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  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 440
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3629
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2092
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 463
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3245
  bin: 9.25e1
  variant carriers: 0
hgvs: c.4078+6G>A
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

5-35774137-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774137
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774137
    reference: chr 5
allele count: 2
allele frequency: 1.698744627720115e-5
allele num: 117734
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52811G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426624
  ensembl transcript: ENST00000506526
  gene symbol: SPEF2
  hgvsc: ENST00000506526.1:c.30+14C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.4063+14C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4078+14C>T
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14293
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 218
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 709
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2306
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1239
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10759
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 882
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5863
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 651
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2398
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5263
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 608
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6451
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3615
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16317
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

5-35774138-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774138
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774138
    reference: chr 5
allele count: 1
allele frequency: 8.496032352891199e-6
allele num: 117702
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52810C>T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.4063+15G>A
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4078+15G>A
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426624
  ensembl transcript: ENST00000506526
  gene symbol: SPEF2
  hgvsc: ENST00000506526.1:c.30+15G>A
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10723
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14213
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2463
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 222
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1277
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 740
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5861
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15094
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16081
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2491
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 352
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 82
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6443
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13939
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4568
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 657
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5262
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: African
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff

5-35774147-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774147
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774147
    reference: chr 5
allele count: 1
allele frequency: 8.517307168165713e-6
allele num: 117408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426624
  ensembl transcript: ENST00000506526
  gene symbol: SPEF2
  hgvsc: ENST00000506526.1:c.30+24G>A
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.4063+24G>A
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4078+24G>A
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52801C>T
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14426
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1078
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2975
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10701
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3181
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5862
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13905
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15208
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 822
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6409
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 907
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5259
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 118
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3614
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2751
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 298
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2255
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: South Asian
reference allele: G
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

5-35774157-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774157
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774157
    reference: chr 5
allele count: 1
allele frequency: 8.563550105331666e-6
allele num: 116774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.4063+34A>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4078+34A>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426624
  ensembl transcript: ENST00000506526
  gene symbol: SPEF2
  hgvsc: ENST00000506526.1:c.30+34A>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52791T>A
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1584
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5859
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 369
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13624
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1798
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13727
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3060
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10675
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13939
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2256
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5256
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 922
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3601
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 219
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 749
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: South Asian
reference allele: A
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff

5-35774168-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774168
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774168
    reference: chr 5
allele count: 3
allele frequency: 2.581622291447946e-5
allele num: 116206
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4078+45G>A
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52780C>T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426624
  ensembl transcript: ENST00000506526
  gene symbol: SPEF2
  hgvsc: ENST00000506526.1:c.30+45G>A
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.4063+45G>A
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 394
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2905
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1869
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3183
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10680
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13613
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5866
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13459
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2258
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13696
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6326
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3600
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 840
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 423
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 393
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2377
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1132
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 314
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 494
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 930
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5258
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: QD

5-35774170-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 35774170
    reference: chr 5
  end: Position
    type: ExactPosition
    position: 35774170
    reference: chr 5
allele count: 2
allele frequency: 1.724673174433445e-5
allele num: 115964
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000412125
  ensembl transcript: ENST00000440995
  gene symbol: SPEF2
  hgvsc: ENST00000440995.2:c.4063+47C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000248969
  ensembl transcript: ENST00000510433
  gene symbol: CTD-2113L7.1
  hgvsc: ENST00000510433.1:n.173+52778G>A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000426624
  ensembl transcript: ENST00000506526
  gene symbol: SPEF2
  hgvsc: ENST00000506526.1:c.30+47C>T
  variant of: http://identifiers.org/hgnc/26293
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000152582
  ensembl protein: ENSP00000348314
  ensembl transcript: ENST00000356031
  gene symbol: SPEF2
  hgvsc: ENST00000356031.3:c.4078+47C>T
  variant of: http://identifiers.org/hgnc/26293
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13617
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1860
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3185
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 395
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 521
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5869
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1862
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1240
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 289
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1799
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 881
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10694
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 6329
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1119
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3597
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 3380
bin: 7.75e1
variant carriers: 0

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: 6550
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.541069502234551e-5
allele num: 64890
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11228
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16152
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8422
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 5.659999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.94e1

FS
type: SiteQuality
SIO_000300: 4.737e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.244e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.83e0

QD
type: SiteQuality
SIO_000300: 1.49e1

DP
type: SiteQuality
SIO_000300: 1.602136e6

VQSLOD
type: SiteQuality
SIO_000300: 2.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

GenotypeQuality
all individuals: 167
bin: 7.5e0
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16196
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: 9434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.077585941587419e-5
allele num: 64986
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6550
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11234
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.94e1

QD
type: SiteQuality
SIO_000300: 1.087e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.72e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.162e0

DP
type: SiteQuality
SIO_000300: 1.607413e6

MQRankSum
type: SiteQuality
SIO_000300: -4.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e-1

GenotypeQuality
all individuals: 1941
bin: 2.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9430
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8338
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.539788125153979e-5
allele num: 64944
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16230
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 1.608548e6

MQRankSum
type: SiteQuality
SIO_000300: 1.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.15e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.868e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

QD
type: SiteQuality
SIO_000300: 1.144e1

MQ
type: SiteQuality
SIO_000300: 5.909e1

FS
type: SiteQuality
SIO_000300: 6.884e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.056e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.9e-1

GenotypeQuality
all individuals: 30439
bin: 6.25e1
variant carriers: 0

Latino
type: Population
allele count: 3
allele frequency: 2.668089647812167e-4
allele num: 11244
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64962
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16240
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8316
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: 29
allele frequency: 3.075943996605855e-3
allele num: 9428
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.232e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.32e0

MQRankSum
type: SiteQuality
SIO_000300: 4.33e-1

DP
type: SiteQuality
SIO_000300: 1.608384e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.39e0

FS
type: SiteQuality
SIO_000300: 2.448e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

GenotypeQuality
all individuals: 5631
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 1
allele frequency: 8.89521437466643e-5
allele num: 11242
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9428
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8316
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16238
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.693e0

MQ
type: SiteQuality
SIO_000300: 5.743e1

FS
type: SiteQuality
SIO_000300: 1.451e0

VQSLOD
type: SiteQuality
SIO_000300: -2.596e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.36e-1

QD
type: SiteQuality
SIO_000300: 7.17e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.74e0

DP
type: SiteQuality
SIO_000300: 1.608784e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.93e0

GenotypeQuality
all individuals: 1399
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64914
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9422
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11236
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.210946960523129e-4
allele num: 8258
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16256
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.608363e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 5.03e-1

FS
type: SiteQuality
SIO_000300: 6.172e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.04e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.59e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.107e1

GenotypeQuality
all individuals: 467
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64870
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.901548869503294e-5
allele num: 11234
num of homozygotes: 0

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: 9406
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6566
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8244
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 5.921e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.97e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-3

QD
type: SiteQuality
SIO_000300: 1.196e1

DP
type: SiteQuality
SIO_000300: 1.608929e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.600000000000001e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.96e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.17e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

GenotypeQuality
all individuals: 714
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.228199459592238e-4
allele num: 16284
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64862
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9408
num of homozygotes: 0

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

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

MQRankSum
type: SiteQuality
SIO_000300: 1.51e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

VQSLOD
type: SiteQuality
SIO_000300: 1.88e-1

DP
type: SiteQuality
SIO_000300: 1.617184e6

FS
type: SiteQuality
SIO_000300: 4.498e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.708e0

QD
type: SiteQuality
SIO_000300: 1.064e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.16e-1

GenotypeQuality
all individuals: 948
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8182
num of homozygotes: 0

South Asian
type: Population
allele count: 11
allele frequency: 6.7559267903206e-4
allele num: 16282
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: 6568
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64860
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11240
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9404
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.620000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -8.110000000000001e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.21e-1

QD
type: SiteQuality
SIO_000300: 1.236e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.55e-1

DP
type: SiteQuality
SIO_000300: 1.617812e6

GenotypeQuality
all individuals: 1427
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 232
allele frequency: 3.576383536303376e-3
allele num: 64870
num of homozygotes: 1

South Asian
type: Population
allele count: 10
allele frequency: 6.143260842855387e-4
allele num: 16278
num of homozygotes: 0

African
type: Population
allele count: 6
allele frequency: 6.382978723404255e-4
allele num: 9400
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8178
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 16
allele frequency: 2.43605359317905e-3
allele num: 6568
num of homozygotes: 0

Latino
type: Population
allele count: 3
allele frequency: 2.667615152054063e-4
allele num: 11246
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.133786848072562e-3
allele num: 882
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.12e0

FS
type: SiteQuality
SIO_000300: 5.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.87e-1

QD
type: SiteQuality
SIO_000300: 1.335e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.964e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.15e-1

DP
type: SiteQuality
SIO_000300: 1.623435e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.8e-2

GenotypeQuality
all individuals: 7287
bin: 6.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64888
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16290
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8174
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African
type: Population
allele count: 5
allele frequency: 5.314625850340137e-4
allele num: 9408
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 8.55e-1

DP
type: SiteQuality
SIO_000300: 1.621707e6

QD
type: SiteQuality
SIO_000300: 1.406e1

FS
type: SiteQuality
SIO_000300: 5.644e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.3e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 8.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.23e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.1e-2

GenotypeQuality
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bin: 8.25e1
variant carriers: 1

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

European (Non-Finnish)
type: Population
allele count: 32
allele frequency: 4.931422407150563e-4
allele num: 64890
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8176
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.137983551629607e-4
allele num: 6566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9410
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.622358e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 5.46e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.34e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.47e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.441e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.03e-1

GenotypeQuality
all individuals: 905
bin: 5.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.5416872224963e-5
allele num: 64864
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9408
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: 16292
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 3.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.1e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.291e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.74e-1

DP
type: SiteQuality
SIO_000300: 1.623104e6

MQ
type: SiteQuality
SIO_000300: 5.911e1

GenotypeQuality
all individuals: 464
bin: 5.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.083754779819908e-5
allele num: 64856
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16292
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11252
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9406
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.31e0

DP
type: SiteQuality
SIO_000300: 1.624073e6

MQ
type: SiteQuality
SIO_000300: 5.455e1

MQRankSum
type: SiteQuality
SIO_000300: -5.43e-1

QD
type: SiteQuality
SIO_000300: 2.076e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.13e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

FS
type: SiteQuality
SIO_000300: 1.089e0

VQSLOD
type: SiteQuality
SIO_000300: 1.42e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.42e-1

GenotypeQuality
all individuals: 1178
bin: 8.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64810
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9414
num of homozygotes: 0

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

East Asian
type: Population
allele count: 1
allele frequency: 1.226391954868776e-4
allele num: 8154
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16300
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 1.628881e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.003e0

QD
type: SiteQuality
SIO_000300: 1.047e1

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.453e0

VQSLOD
type: SiteQuality
SIO_000300: 4.15e-1

GenotypeQuality
all individuals: 611
bin: 2.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16302
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8154
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9418
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.062e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.53e-1

FS
type: SiteQuality
SIO_000300: 6.243e0

VQSLOD
type: SiteQuality
SIO_000300: -1.323e0

MQ
type: SiteQuality
SIO_000300: 5.794e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

DP
type: SiteQuality
SIO_000300: 1.632285e6

BaseQRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.61e-1

QD
type: SiteQuality
SIO_000300: 1.41e1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11264
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8152
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9414
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16326
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.618084418583171e-5
allele num: 64962
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 8.179999999999999e-1

FS
type: SiteQuality
SIO_000300: 6.991e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-3

DP
type: SiteQuality
SIO_000300: 1.643727e6

ClippingRankSum
type: SiteQuality
SIO_000300: -5.27e-1

QD
type: SiteQuality
SIO_000300: 1.48e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.66e0

VQSLOD
type: SiteQuality
SIO_000300: 1.26e0

GenotypeQuality
all individuals: 5831
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
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allele count: 1
allele frequency: 1.538414202639919e-5
allele num: 65002
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: 0
allele frequency: 0.0e0
allele num: 8156
num of homozygotes: 0

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

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

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9426
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.913e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

FS
type: SiteQuality
SIO_000300: 2.704e0

DP
type: SiteQuality
SIO_000300: 1.645706e6

ClippingRankSum
type: SiteQuality
SIO_000300: 5.649999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.098e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.71e0

QD
type: SiteQuality
SIO_000300: 1.12e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.41e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.938e0

GenotypeQuality
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bin: 9.75e1
variant carriers: 2

South Asian
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allele frequency: 0.0e0
allele num: 16350
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 1.05909764880322e-4
allele num: 9442
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.847991505928154e-5
allele num: 11302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65186
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8212
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.656e0

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.059e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.000000000000001e-2

MQRankSum
type: SiteQuality
SIO_000300: -8.46e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.664564e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

GenotypeQuality
all individuals: 1257
bin: 8.75e1
variant carriers: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9442
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 1
allele frequency: 8.847991505928154e-5
allele num: 11302
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65222
num of homozygotes: 0

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

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.5e-2

DP
type: SiteQuality
SIO_000300: 1.667434e6

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 5.191e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 5.17e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

ReadPosRankSum
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.541e1

GenotypeQuality
all individuals: 1266
bin: 8.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.224739742804654e-4
allele num: 65320
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16284
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9458
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 3.9e-2

DP
type: SiteQuality
SIO_000300: 1.67099e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.87e-1

BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-4

VQSLOD
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

GenotypeQuality
all individuals: 1513
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.838607035531201e-5
allele num: 11314
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65320
num of homozygotes: 0

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

South Asian
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African
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FS
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BaseQRankSum
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MQRankSum
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InbreedingCoeff
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MQ
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DP
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ReadPosRankSum
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VQSLOD
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QD
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GenotypeQuality
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European (Non-Finnish)
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East Asian
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African
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Other
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European (Finnish)
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South Asian
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Latino
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VQSLOD
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MQ
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MQRankSum
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BaseQRankSum
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InbreedingCoeff
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QD
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FS
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ReadPosRankSum
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DP
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GenotypeQuality
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South Asian
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European (Finnish)
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African
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Latino
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East Asian
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European (Non-Finnish)
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Other
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QD
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VQSLOD
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InbreedingCoeff
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BaseQRankSum
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MQ
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MQRankSum
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ReadPosRankSum
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FS
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DP
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East Asian
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African
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Latino
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Other
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South Asian
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European (Non-Finnish)
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FS
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DP
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ClippingRankSum
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VQSLOD
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MQ
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MQRankSum
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InbreedingCoeff
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BaseQRankSum
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QD
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East Asian
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European (Finnish)
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Other
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South Asian
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African
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Latino
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European (Non-Finnish)
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InbreedingCoeff
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ClippingRankSum
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VQSLOD
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MQ
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FS
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MQRankSum
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BaseQRankSum
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DP
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ReadPosRankSum
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QD
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African
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Latino
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European (Finnish)
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East Asian
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South Asian
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Other
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BaseQRankSum
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ReadPosRankSum
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FS
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InbreedingCoeff
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MQRankSum
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ClippingRankSum
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VQSLOD
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MQ
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QD
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DP
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European (Finnish)
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African
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Other
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South Asian
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Latino
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European (Non-Finnish)
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East Asian
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MQRankSum
type: SiteQuality
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QD
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DP
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BaseQRankSum
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FS
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InbreedingCoeff
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VQSLOD
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MQ
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ClippingRankSum
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ReadPosRankSum
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Latino
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African
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European (Finnish)
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Other
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East Asian
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European (Non-Finnish)
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MQRankSum
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VQSLOD
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BaseQRankSum
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ReadPosRankSum
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FS
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QD
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MQ
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ClippingRankSum
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DP
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InbreedingCoeff
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European (Non-Finnish)
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East Asian
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Latino
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Other
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European (Finnish)
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African
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South Asian
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FS
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VQSLOD
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BaseQRankSum
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InbreedingCoeff
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QD
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ReadPosRankSum
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MQRankSum
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DP
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MQ
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ClippingRankSum
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European (Non-Finnish)
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African
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European (Finnish)
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South Asian
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Latino
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East Asian
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QD
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ReadPosRankSum
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MQ
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DP
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InbreedingCoeff
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MQRankSum
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VQSLOD
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BaseQRankSum
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FS
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ClippingRankSum
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African
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South Asian
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Latino
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European (Finnish)
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East Asian
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QD
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BaseQRankSum
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ClippingRankSum
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MQRankSum
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VQSLOD
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FS
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MQ
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InbreedingCoeff
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ReadPosRankSum
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DP
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Latino
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South Asian
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African
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East Asian
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European (Finnish)
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European (Non-Finnish)
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MQRankSum
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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QD
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ClippingRankSum
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BaseQRankSum
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FS
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MQ
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DP
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European (Finnish)
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East Asian
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European (Non-Finnish)
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African
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Latino
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South Asian
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Other
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InbreedingCoeff
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QD
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VQSLOD
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BaseQRankSum
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MQRankSum
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FS
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DP
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MQ
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ReadPosRankSum
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European (Finnish)
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South Asian
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European (Non-Finnish)
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East Asian
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Latino
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African
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FS
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InbreedingCoeff
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MQRankSum
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ReadPosRankSum
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DP
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BaseQRankSum
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VQSLOD
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MQ
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QD
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ClippingRankSum
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European (Non-Finnish)
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South Asian
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African
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East Asian
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Other
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6570
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 2.04e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

FS
type: SiteQuality
SIO_000300: 2.195e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.78e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.267e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.1e-3

DP
type: SiteQuality
SIO_000300: 1.819313e6

QD
type: SiteQuality
SIO_000300: 1.084e1

MQRankSum
type: SiteQuality
SIO_000300: 1.89e-1

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.52114390021296e-4
allele num: 6574
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14936
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65360
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.816e0

VQSLOD
type: SiteQuality
SIO_000300: 2.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.429e0

MQRankSum
type: SiteQuality
SIO_000300: -4.9e-2

QD
type: SiteQuality
SIO_000300: 8.99e0

DP
type: SiteQuality
SIO_000300: 1.853016e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.65e-1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 2
allele frequency: 2.088991017338625e-4
allele num: 9574
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65766
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15778
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.823010411152286e-5
allele num: 11334
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

DP
type: SiteQuality
SIO_000300: 1.874991e6

FS
type: SiteQuality
SIO_000300: 1.225e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 3.74e0

QD
type: SiteQuality
SIO_000300: 1.149e1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.11e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

GenotypeQuality
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bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.034625072072346e-5
allele num: 65906
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11338
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9580
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 892
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16020
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.883916e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -1.601e0

FS
type: SiteQuality
SIO_000300: 2.976e0

QD
type: SiteQuality
SIO_000300: 1.087e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.64e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.56e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.32e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.98e-1

MQ
type: SiteQuality
SIO_000300: 5.959e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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: 9584
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16142
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.516346212167162e-5
allele num: 65948
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.455e1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.22e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

DP
type: SiteQuality
SIO_000300: 1.88662e6

GenotypeQuality
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bin: 5.75e1
variant carriers: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16142
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.043405676126878e-4
allele num: 9584
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8578
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65948
num of homozygotes: 0

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

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 9.22e-1

DP
type: SiteQuality
SIO_000300: 1.88662e6

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.1e-3

MQRankSum
type: SiteQuality
SIO_000300: 6.860000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.31e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e0

MQ
type: SiteQuality
SIO_000300: 5.94e1

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66038
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
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allele count: 2
allele frequency: 1.227295041728031e-4
allele num: 16296
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.976e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.58e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.814e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.04e-1

DP
type: SiteQuality
SIO_000300: 1.892806e6

MQRankSum
type: SiteQuality
SIO_000300: 6.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.2e0

FS
type: SiteQuality
SIO_000300: 3.126e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.217e1

GenotypeQuality
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bin: 9.75e1
variant carriers: 1

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 1
allele frequency: 1.165772907437631e-4
allele num: 8578
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66058
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16312
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VQSLOD
type: SiteQuality
SIO_000300: 3.08e-1

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -3.39e-1

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.892965e6

FS
type: SiteQuality
SIO_000300: 1.197e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 1.49e0

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.51285930408472e-5
allele num: 66100
num of homozygotes: 0

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

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

East Asian
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allele count: 0
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African
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.88e-1

FS
type: SiteQuality
SIO_000300: 9.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.2e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.34e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.06e-1

DP
type: SiteQuality
SIO_000300: 1.895664e6

MQRankSum
type: SiteQuality
SIO_000300: 1.1e0

GenotypeQuality
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bin: 3.75e1
variant carriers: 0

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

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 16396
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512218727316719e-5
allele num: 66128
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11360
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6588
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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Other
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ClippingRankSum
type: SiteQuality
SIO_000300: -4.7e-1

MQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.951e1

FS
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: 4.95e-1

QD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.06e-1

DP
type: SiteQuality
SIO_000300: 1.897173e6

GenotypeQuality
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bin: 7.25e1
variant carriers: 0

European (Finnish)
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allele count: 0
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allele num: 6590
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.512218727316719e-5
allele num: 66128
num of homozygotes: 0

Latino
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num of homozygotes: 0

South Asian
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Other
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East Asian
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num of homozygotes: 0

MQ
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.36e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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GenotypeQuality
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bin: 8.25e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9616
num of homozygotes: 0

Latino
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allele count: 1
allele frequency: 8.804366966015144e-5
allele num: 11358
num of homozygotes: 0

European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 66128
num of homozygotes: 0

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

European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -5.6e-2

BaseQRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.897922e6

QD
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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FS
type: SiteQuality
SIO_000300: 8.36e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

GenotypeQuality
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bin: 4.25e1
variant carriers: 0

East Asian
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allele count: 0
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allele num: 8582
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 11364
num of homozygotes: 0

European (Non-Finnish)
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allele frequency: 4.5355587808418e-5
allele num: 66144
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

Other
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allele count: 0
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allele num: 894
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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QD
type: SiteQuality
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FS
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.93e-2

DP
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
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allele count: 2
allele frequency: 3.023614428688054e-5
allele num: 66146
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
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num of homozygotes: 0

Other
type: Population
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African
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allele num: 9626
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MQRankSum
type: SiteQuality
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FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.73e-1

DP
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
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QD
type: SiteQuality
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GenotypeQuality
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bin: 5.25e1
variant carriers: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 9632
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511532996765319e-5
allele num: 66158
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.27e0

VQSLOD
type: SiteQuality
SIO_000300: -4.243e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.36e-1

FS
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

DP
type: SiteQuality
SIO_000300: 1.899603e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.0e-1

QD
type: SiteQuality
SIO_000300: 7.55e0

GenotypeQuality
all individuals: 6736
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511532996765319e-5
allele num: 66158
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9634
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.11e-1

FS
type: SiteQuality
SIO_000300: 2.821e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

DP
type: SiteQuality
SIO_000300: 1.899969e6

MQ
type: SiteQuality
SIO_000300: 5.979e1

QD
type: SiteQuality
SIO_000300: 1.266e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.94e-1

GenotypeQuality
all individuals: 3230
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.083465141744738e-5
allele num: 16438
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9638
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.63e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.474e-1

QD
type: SiteQuality
SIO_000300: 8.19e0

DP
type: SiteQuality
SIO_000300: 1.900362e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.61e-1

FS
type: SiteQuality
SIO_000300: 2.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.79e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

GenotypeQuality
all individuals: 80
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66200
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6590
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11372
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.080505898090721e-5
allele num: 16446
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.931e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.561e0

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.278e0

VQSLOD
type: SiteQuality
SIO_000300: -6.575e-1

DP
type: SiteQuality
SIO_000300: 1.902851e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.06e0

QD
type: SiteQuality
SIO_000300: 8.359999999999999e0

GenotypeQuality
all individuals: 2263
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.216397031991242e-4
allele num: 16442
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9640
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.919e1

FS
type: SiteQuality
SIO_000300: 1.029e0

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

MQRankSum
type: SiteQuality
SIO_000300: -2.52e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.903085e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

GenotypeQuality
all individuals: 78
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510847887834653e-5
allele num: 66188
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9640
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 8.400000000000001e-2

DP
type: SiteQuality
SIO_000300: 1.903085e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.27e0

FS
type: SiteQuality
SIO_000300: 1.029e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.8e-1

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

MQ
type: SiteQuality
SIO_000300: 5.919e1

MQRankSum
type: SiteQuality
SIO_000300: -2.52e-1

GenotypeQuality
all individuals: 53
bin: 3.75e1
variant carriers: 0

East Asian
type: Population
allele count: 2
allele frequency: 2.332089552238806e-4
allele num: 8576
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66188
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9640
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16444
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11376
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 6.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.01e-1

FS
type: SiteQuality
SIO_000300: 6.611e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.90316e6

ClippingRankSum
type: SiteQuality
SIO_000300: 6.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.51e0

QD
type: SiteQuality
SIO_000300: 1.535e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.22e-1

GenotypeQuality
all individuals: 2264
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11374
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16442
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9642
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.510665296996797e-5
allele num: 66196
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 896
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.53e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.67e-1

FS
type: SiteQuality
SIO_000300: 3.54e0

QD
type: SiteQuality
SIO_000300: 1.455e1

MQRankSum
type: SiteQuality
SIO_000300: -3.11e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.11e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.55e-1

DP
type: SiteQuality
SIO_000300: 1.903082e6

GenotypeQuality
all individuals: 3220
bin: 9.25e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 9
allele frequency: 1.360132990781321e-4
allele num: 66170
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

Latino
type: Population
allele count: 23
allele frequency: 2.022867194371152e-3
allele num: 11370
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
num of homozygotes: 0

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

African
type: Population
allele count: 472
allele frequency: 4.899314926302678e-2
allele num: 9634
num of homozygotes: 12

MQ
type: SiteQuality
SIO_000300: 5.982e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.745e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.05e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.1e-1

DP
type: SiteQuality
SIO_000300: 1.922123e6

VQSLOD
type: SiteQuality
SIO_000300: 6.35e0

QD
type: SiteQuality
SIO_000300: 1.393e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.16e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -6.0e-2

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11362
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66156
num of homozygotes: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.093102607847916e-5
allele num: 16412
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

MQ
type: SiteQuality
SIO_000300: 5.727e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

FS
type: SiteQuality
SIO_000300: 6.037e0

QD
type: SiteQuality
SIO_000300: 1.516e1

DP
type: SiteQuality
SIO_000300: 1.913313e6

MQRankSum
type: SiteQuality
SIO_000300: -1.074e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.71e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

GenotypeQuality
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bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.093102607847916e-5
allele num: 16412
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9612
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.80126738250308e-5
allele num: 11362
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.516e1

DP
type: SiteQuality
SIO_000300: 1.913313e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.074e0

FS
type: SiteQuality
SIO_000300: 6.037e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.3e0

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.71e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.56e-1

MQ
type: SiteQuality
SIO_000300: 5.727e1

GenotypeQuality
all individuals: 3246
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.535284513515148e-5
allele num: 66148
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: 6602
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11360
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9606
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.913193e6

VQSLOD
type: SiteQuality
SIO_000300: -2.494e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.383e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

FS
type: SiteQuality
SIO_000300: 7.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.526e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.944e1

QD
type: SiteQuality
SIO_000300: 2.442e1

GenotypeQuality
all individuals: 5304
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4588
bin: 8.25e1
variant carriers: 0

GenotypeQuality
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bin: 9.75e1
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GenotypeQuality
all individuals: 3246
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
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: 11356
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.042318115488847e-4
allele num: 9594
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66124
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

DP
type: SiteQuality
SIO_000300: 1.912642e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

MQ
type: SiteQuality
SIO_000300: 5.948e1

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.107e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.81e-1

QD
type: SiteQuality
SIO_000300: 1.322e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

GenotypeQuality
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bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3672
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2258
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16388
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512310205069264e-5
allele num: 66124
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9594
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.04e0

MQ
type: SiteQuality
SIO_000300: 5.948e1

VQSLOD
type: SiteQuality
SIO_000300: 3.27e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.107e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.81e-1

QD
type: SiteQuality
SIO_000300: 1.322e1

DP
type: SiteQuality
SIO_000300: 1.912642e6

MQRankSum
type: SiteQuality
SIO_000300: 2.0e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-3

GenotypeQuality
all individuals: 3247
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13923
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5292
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.515013786625458e-5
allele num: 66006
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8566
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16236
num of homozygotes: 0

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.965e1

QD
type: SiteQuality
SIO_000300: 1.221e1

FS
type: SiteQuality
SIO_000300: 9.6e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.318e0

MQRankSum
type: SiteQuality
SIO_000300: -5.45e-1

DP
type: SiteQuality
SIO_000300: 1.90885e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.62e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.49e0

GenotypeQuality
all individuals: 6693
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4583
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18998
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 1.75e1
variant carriers: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11350
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: 2
allele frequency: 3.032140691328078e-5
allele num: 65960
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16168
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9564
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.603e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.9e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.909999999999999e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.34e-1

DP
type: SiteQuality
SIO_000300: 1.905764e6

MQRankSum
type: SiteQuality
SIO_000300: 7.33e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.51e-1

QD
type: SiteQuality
SIO_000300: 1.51e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.53e0

GenotypeQuality
all individuals: 62
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18734
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3651
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2254
bin: 8.75e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11346
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.16795141322121e-4
allele num: 8562
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.033888534935227e-5
allele num: 65922
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9558
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16090
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 3.14e0

VQSLOD
type: SiteQuality
SIO_000300: 7.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.2e-2

MQ
type: SiteQuality
SIO_000300: 5.933e1

MQRankSum
type: SiteQuality
SIO_000300: -1.8e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

QD
type: SiteQuality
SIO_000300: 1.759e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.67e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

DP
type: SiteQuality
SIO_000300: 1.903297e6

GenotypeQuality
all individuals: 3647
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11348
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9558
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
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: 888
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.517450682852807e-5
allele num: 65900
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.16e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

VQSLOD
type: SiteQuality
SIO_000300: -4.105e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.874e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.229e1

MQRankSum
type: SiteQuality
SIO_000300: -7.45e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

DP
type: SiteQuality
SIO_000300: 1.902044e6

GenotypeQuality
all individuals: 5289
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 38
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3246
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2254
bin: 8.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 5
allele frequency: 4.408393581378946e-4
allele num: 11342
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65838
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15918
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8556
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.07e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.215e0

FS
type: SiteQuality
SIO_000300: 3.222e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.5e-1

DP
type: SiteQuality
SIO_000300: 1.898387e6

MQ
type: SiteQuality
SIO_000300: 5.977e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

MQRankSum
type: SiteQuality
SIO_000300: 5.5e-1

QD
type: SiteQuality
SIO_000300: 1.244e1

GenotypeQuality
all individuals: 463
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5273
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4570
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6498
bin: 6.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.513775355737209e-4
allele num: 6606
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11330
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15554
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522487134983709e-5
allele num: 65682
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.6e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.59e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.21e0

MQRankSum
type: SiteQuality
SIO_000300: 2.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.884436e6

ClippingRankSum
type: SiteQuality
SIO_000300: -6.14e-1

FS
type: SiteQuality
SIO_000300: 5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.01e0

QD
type: SiteQuality
SIO_000300: 1.341e1

GenotypeQuality
all individuals: 2255
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17107
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4569
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5276
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15572
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9518
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11328
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8548
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.044510747122937e-5
allele num: 65692
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.883781e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.4e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.25e0

FS
type: SiteQuality
SIO_000300: 1.69e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.66e-1

QD
type: SiteQuality
SIO_000300: 1.452e1

MQRankSum
type: SiteQuality
SIO_000300: 3.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.919999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.34e-1

GenotypeQuality
all individuals: 4570
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13939
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 85
bin: 4.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.524859715516116e-5
allele num: 15326
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11318
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525134211810639e-5
allele num: 65568
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9496
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8546
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.78e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.2e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.57e0

FS
type: SiteQuality
SIO_000300: 7.681e0

QD
type: SiteQuality
SIO_000300: 8.869999999999999e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

DP
type: SiteQuality
SIO_000300: 1.872518e6

VQSLOD
type: SiteQuality
SIO_000300: -7.589e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.15e-1

GenotypeQuality
all individuals: 105
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 240
bin: 7.5e0
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15340
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525785779676533e-5
allele num: 65540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11314
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9484
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.17e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

FS
type: SiteQuality
SIO_000300: 1.926e0

QD
type: SiteQuality
SIO_000300: 9.550000000000001e0

MQ
type: SiteQuality
SIO_000300: 5.935e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.002e0

MQRankSum
type: SiteQuality
SIO_000300: 1.24e0

DP
type: SiteQuality
SIO_000300: 1.869606e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

GenotypeQuality
all individuals: 4563
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 517
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13939
bin: 9.75e1
variant carriers: 1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9472
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.527650473571647e-5
allele num: 65460
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8540
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11310
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15150
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 2.172e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.98e-1

QD
type: SiteQuality
SIO_000300: 5.64e0

MQRankSum
type: SiteQuality
SIO_000300: -1.195e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.43e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.81e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -1.78e0

DP
type: SiteQuality
SIO_000300: 1.85874e6

GenotypeQuality
all individuals: 14138
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4559
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.532567049808429e-5
allele num: 65250
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9442
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8526
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14780
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.662e1

FS
type: SiteQuality
SIO_000300: 7.15e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.614e0

DP
type: SiteQuality
SIO_000300: 1.848048e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.11e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.12e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3246
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13943
bin: 9.75e1
variant carriers: 3

South Asian
type: Population
allele count: 1
allele frequency: 6.913716814159292e-5
allele num: 14464
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.854258898530193e-5
allele num: 11294
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8512
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65046
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9428
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.157407407407407e-3
allele num: 864
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.96e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.2e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.96e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.69e-1

FS
type: SiteQuality
SIO_000300: 7.61e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.5e-2

DP
type: SiteQuality
SIO_000300: 1.844211e6

QD
type: SiteQuality
SIO_000300: 1.275e1