7-20795230-GCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20795230
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20795228
    reference: chr 7
allele count: 41
allele frequency: 3.400909121072365e-4
allele num: 120556
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000258738
  ensembl transcript: ENST00000258738
  gene symbol: ABCB5
  hgvsc: ENST00000258738.6:c.2425_2426delCA
  hgvsp: ENSP00000258738.6:p.Gln809ValfsTer?
  variant of: http://identifiers.org/hgnc/46
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000398692
  ensembl transcript: ENST00000441315
  gene symbol: ABCB5
  hgvsc: ENST00000441315.1:c.931-7646_931-7645delCA
  variant of: http://identifiers.org/hgnc/46
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000384881
  ensembl transcript: ENST00000404938
  gene symbol: ABCB5
  hgvsc: ENST00000404938.2:c.3760_3761delCA
  hgvsp: ENSP00000384881.2:p.Gln1254ValfsTer9
  variant of: http://identifiers.org/hgnc/46
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1598
  bin: 3.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 974
  bin: 4.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 4404
  bin: 3.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 422
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 383
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 18847
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 31713
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 675
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 896
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5364
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 178
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 407
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 123
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 9.75e1
  variant carriers: 41
genotype quality: GenotypeQuality
  all individuals: 118
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 227
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 813
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46302
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1440
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gln1254ValfsTer9
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: GCA
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff

7-20795237-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20795237
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20795237
    reference: chr 7
allele count: 46
allele frequency: 3.823773898586866e-4
allele num: 120300
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000398692
  ensembl transcript: ENST00000441315
  gene symbol: ABCB5
  hgvsc: ENST00000441315.1:c.931-7642C>G
  variant of: http://identifiers.org/hgnc/46
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000384881
  ensembl transcript: ENST00000404938
  gene symbol: ABCB5
  hgvsc: ENST00000404938.2:c.3764C>G
  hgvsp: ENSP00000384881.2:p.Ser1255Ter
  variant of: http://identifiers.org/hgnc/46
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000258738
  ensembl transcript: ENST00000258738
  gene symbol: ABCB5
  hgvsc: ENST00000258738.6:c.2429C>G
  hgvsp: ENSP00000258738.6:p.Ser810Ter
  variant of: http://identifiers.org/hgnc/46
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 5.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 895
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18827
  bin: 2.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 973
  bin: 4.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 541
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31360
  bin: 2.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 387
  bin: 5.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 4.75e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1596
  bin: 3.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 891
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 224
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 46016
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5271
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 226
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2666
  bin: 9.75e1
  variant carriers: 44
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1064
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 563
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser1255Ter
num of homozygotes: 1
population: Other
population: African
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-20795239-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20795239
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20795239
    reference: chr 7
allele count: 1
allele frequency: 8.32251406504877e-6
allele num: 120156
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000258738
  ensembl transcript: ENST00000258738
  gene symbol: ABCB5
  hgvsc: ENST00000258738.6:c.2431G>C
  hgvsp: ENSP00000258738.6:p.Val811Leu
  variant of: http://identifiers.org/hgnc/46
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000398692
  ensembl transcript: ENST00000441315
  gene symbol: ABCB5
  hgvsc: ENST00000441315.1:c.931-7640G>C
  variant of: http://identifiers.org/hgnc/46
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000384881
  ensembl transcript: ENST00000404938
  gene symbol: ABCB5
  hgvsc: ENST00000404938.2:c.3766G>C
  hgvsp: ENSP00000384881.2:p.Val1256Leu
  variant of: http://identifiers.org/hgnc/46
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 626
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 611
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18818
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1027
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 963
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31189
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4391
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 221
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 137
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 169
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1207
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1407
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2623
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1209
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 259
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 246
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45810
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Val1256Leu
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
population: South Asian
population: European (Finnish)
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD

7-20795241-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20795241
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20795241
    reference: chr 7
allele count: 4
allele frequency: 3.330114222917846e-5
allele num: 120116
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000258738
  ensembl transcript: ENST00000258738
  gene symbol: ABCB5
  hgvsc: ENST00000258738.6:c.2433G>A
  hgvsp: ENST00000258738.6:c.2433G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/46
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000398692
  ensembl transcript: ENST00000441315
  gene symbol: ABCB5
  hgvsc: ENST00000441315.1:c.931-7638G>A
  variant of: http://identifiers.org/hgnc/46
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000384881
  ensembl transcript: ENST00000404938
  gene symbol: ABCB5
  hgvsc: ENST00000404938.2:c.3768G>A
  hgvsp: ENST00000404938.2:c.3768G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/46
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 964
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1588
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4378
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31140
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 18800
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 635
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 172
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 280
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 405
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1265
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 885
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5242
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1401
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45892
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2625
  bin: 9.75e1
  variant carriers: 4
hgvs: p.Val1256Val
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: QD

7-20795248-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20795248
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20795248
    reference: chr 7
allele count: 1
allele frequency: 8.36372152152822e-6
allele num: 119564
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000384881
  ensembl transcript: ENST00000404938
  gene symbol: ABCB5
  hgvsc: ENST00000404938.2:c.*1T>C
  variant of: http://identifiers.org/hgnc/46
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000398692
  ensembl transcript: ENST00000441315
  gene symbol: ABCB5
  hgvsc: ENST00000441315.1:c.931-7631T>C
  variant of: http://identifiers.org/hgnc/46
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4350
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30263
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 472
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1824
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18596
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1581
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1964
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2619
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 5095
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 561
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1162
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44950
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 159
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 877
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1382
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 403
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 188
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 3.75e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10270
  num of homozygotes: 0
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ

7-20795249-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20795249
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20795249
    reference: chr 7
allele count: 5
allele frequency: 4.185711654695531e-5
allele num: 119454
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000398692
  ensembl transcript: ENST00000441315
  gene symbol: ABCB5
  hgvsc: ENST00000441315.1:c.931-7630G>A
  variant of: http://identifiers.org/hgnc/46
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000384881
  ensembl transcript: ENST00000404938
  gene symbol: ABCB5
  hgvsc: ENST00000404938.2:c.*2G>A
  variant of: http://identifiers.org/hgnc/46
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 629
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1591
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1972
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4365
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 382
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18557
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 952
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 500
  bin: 1.75e1
  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: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2107
  bin: 2.25e1
  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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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 486
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2624
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 873
  bin: 8.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 561
  bin: 9.25e1
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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: 5071
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6554
  num of homozygotes: 0
population: East Asian
population: Latino
population: South Asian
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP

7-20795250-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20795250
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20795250
    reference: chr 7
allele count: 1
allele frequency: 8.377454594196099e-6
allele num: 119368
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000398692
  ensembl transcript: ENST00000441315
  gene symbol: ABCB5
  hgvsc: ENST00000441315.1:c.931-7629C>T
  variant of: http://identifiers.org/hgnc/46
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000384881
  ensembl transcript: ENST00000404938
  gene symbol: ABCB5
  hgvsc: ENST00000404938.2:c.*3C>T
  variant of: http://identifiers.org/hgnc/46
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4411
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 381
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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
  all individuals: 250
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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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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 522
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 9.75e1
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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: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1362
  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 44429
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10256
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: East Asian
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum

7-20795260-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20795260
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20795260
    reference: chr 7
allele count: 1
allele frequency: 8.444947387977773e-6
allele num: 118414
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000384881
  ensembl transcript: ENST00000404938
  gene symbol: ABCB5
  hgvsc: ENST00000404938.2:c.*13A>G
  variant of: http://identifiers.org/hgnc/46
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000398692
  ensembl transcript: ENST00000441315
  gene symbol: ABCB5
  hgvsc: ENST00000441315.1:c.931-7619A>G
  variant of: http://identifiers.org/hgnc/46
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1017
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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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: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 962
  bin: 4.25e1
  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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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: 1141
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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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: 1309
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 65008
  num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD

7-20795266-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20795266
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20795266
    reference: chr 7
allele count: 4
allele frequency: 3.404139433551199e-5
allele num: 117504
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000398692
  ensembl transcript: ENST00000441315
  gene symbol: ABCB5
  hgvsc: ENST00000441315.1:c.931-7613T>C
  variant of: http://identifiers.org/hgnc/46
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000384881
  ensembl transcript: ENST00000404938
  gene symbol: ABCB5
  hgvsc: ENST00000404938.2:c.*19T>C
  variant of: http://identifiers.org/hgnc/46
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6860
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1876
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1934
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 953
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 4.75e1
  variant carriers: 1
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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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
  all individuals: 70
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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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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  bin: 9.75e1
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 8.75e1
  variant carriers: 0
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 11318
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: DP

7-20795268-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20795268
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20795268
    reference: chr 7
allele count: 4
allele frequency: 3.408025900996847e-5
allele num: 117370
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000384881
  ensembl transcript: ENST00000404938
  gene symbol: ABCB5
  hgvsc: ENST00000404938.2:c.*21T>C
  variant of: http://identifiers.org/hgnc/46
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000398692
  ensembl transcript: ENST00000441315
  gene symbol: ABCB5
  hgvsc: ENST00000441315.1:c.931-7611T>C
  variant of: http://identifiers.org/hgnc/46
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7506
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  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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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
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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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 884
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD

7-20795276-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20795276
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20795276
    reference: chr 7
allele count: 3
allele frequency: 2.573296049132799e-5
allele num: 116582
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000384881
  ensembl transcript: ENST00000404938
  gene symbol: ABCB5
  hgvsc: ENST00000404938.2:c.*29T>G
  variant of: http://identifiers.org/hgnc/46
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000398692
  ensembl transcript: ENST00000441315
  gene symbol: ABCB5
  hgvsc: ENST00000441315.1:c.931-7603T>G
  variant of: http://identifiers.org/hgnc/46
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
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genotype depth: GenotypeDepth
  all individuals: 379
  bin: 5.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
  variant carriers: 3
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6456
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ

7-20795278-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20795278
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20795278
    reference: chr 7
allele count: 2
allele frequency: 1.722801274872944e-5
allele num: 116090
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000398692
  ensembl transcript: ENST00000441315
  gene symbol: ABCB5
  hgvsc: ENST00000441315.1:c.931-7601C>T
  variant of: http://identifiers.org/hgnc/46
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000384881
  ensembl transcript: ENST00000404938
  gene symbol: ABCB5
  hgvsc: ENST00000404938.2:c.*31C>T
  variant of: http://identifiers.org/hgnc/46
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3769
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 82
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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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genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 2
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 6.472491909385113e-5
  allele num: 15450
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum

7-20795288-AAAG-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20795288
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20795285
    reference: chr 7
allele count: 2
allele frequency: 1.744683078318823e-5
allele num: 114634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000398692
  ensembl transcript: ENST00000441315
  gene symbol: ABCB5
  hgvsc: ENST00000441315.1:c.931-7587_931-7585delAAG
  variant of: http://identifiers.org/hgnc/46
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000384881
  ensembl transcript: ENST00000404938
  gene symbol: ABCB5
  hgvsc: ENST00000404938.2:c.*45_*47delAAG
  variant of: http://identifiers.org/hgnc/46
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2967
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
  all individuals: 8500
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 383
  bin: 8.75e1
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 7601
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 786
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2832
  bin: 6.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6414
  num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: AAAG
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: QD
site quality: ReadPosRankSum

7-20795294-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20795294
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20795294
    reference: chr 7
allele count: 1
allele frequency: 8.88320363856021e-6
allele num: 112572
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000398692
  ensembl transcript: ENST00000441315
  gene symbol: ABCB5
  hgvsc: ENST00000441315.1:c.931-7585G>A
  variant of: http://identifiers.org/hgnc/46
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000384881
  ensembl transcript: ENST00000404938
  gene symbol: ABCB5
  hgvsc: ENST00000404938.2:c.*47G>A
  variant of: http://identifiers.org/hgnc/46
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3701
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 3.75e1
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genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 930
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
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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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  bin: 9.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 250
  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
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  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 7601
  bin: 2.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8146
  num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

7-20795295-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20795295
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20795295
    reference: chr 7
allele count: 1
allele frequency: 8.913609298677221e-6
allele num: 112188
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000384881
  ensembl transcript: ENST00000404938
  gene symbol: ABCB5
  hgvsc: ENST00000404938.2:c.*48G>C
  variant of: http://identifiers.org/hgnc/46
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000398692
  ensembl transcript: ENST00000441315
  gene symbol: ABCB5
  hgvsc: ENST00000441315.1:c.931-7584G>C
  variant of: http://identifiers.org/hgnc/46
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.25e1
  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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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  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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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 844
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum

7-20795297-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20795297
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20795297
    reference: chr 7
allele count: 1
allele frequency: 8.964750600638291e-6
allele num: 111548
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000398692
  ensembl transcript: ENST00000441315
  gene symbol: ABCB5
  hgvsc: ENST00000441315.1:c.931-7582G>C
  variant of: http://identifiers.org/hgnc/46
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000384881
  ensembl transcript: ENST00000404938
  gene symbol: ABCB5
  hgvsc: ENST00000404938.2:c.*50G>C
  variant of: http://identifiers.org/hgnc/46
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 30
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13918
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  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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num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14614
  num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

7-20802847-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20802847
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20802847
    reference: chr 7
allele count: 1
allele frequency: 6.859651529702291e-5
allele num: 14578
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000398692
  ensembl transcript: ENST00000441315
  gene symbol: ABCB5
  hgvsc: ENST00000441315.1:c.931-32T>A
  variant of: http://identifiers.org/hgnc/46
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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  variant carriers: 0
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5058
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 484
  num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD

7-20802860-CT-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20802860
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20802859
    reference: chr 7
allele count: 1
allele frequency: 6.856829402084476e-5
allele num: 14584
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000004846
  ensembl protein: ENSP00000398692
  ensembl transcript: ENST00000441315
  gene symbol: ABCB5
  hgvsc: ENST00000441315.1:c.931-15delT
  variant of: http://identifiers.org/hgnc/46
canonical: false
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1199
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 244
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1175
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 63
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 37
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 483
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 95
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1328
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 836
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 76
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 532
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 936
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 236
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1416
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2691
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 619
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 330
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 585
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 7.25e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 1.305142260506395e-4
  allele num: 7662
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 486
  num of homozygotes: 0
population: European (Finnish)
population: Other
population: African
population: Latino
population: European (Non-Finnish)
reference allele: CT
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum

7-20823860-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20823860
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20823860
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 3880
alternate allele: T
canonical: true
consequence: downstream gene
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1564
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 111
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 360
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26202
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 560
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1104
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2553
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 18249
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 966
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 279
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7690
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 527
  bin: 2.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 118
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 40
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 140
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 16
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: BaseQRankSum

7-20823867-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20823867
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20823867
    reference: chr 7
allele count: 3
allele frequency: 7.618080243778568e-4
allele num: 3938
alternate allele: A
canonical: true
consequence: downstream gene
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3901
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25553
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1557
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 276
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 962
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6742
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 910
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18619
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 108
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 518
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2618
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 76
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 1
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 118
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 44
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 14
  num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 3
  allele frequency: 1.197126895450918e-3
  allele num: 2506
  num of homozygotes: 0
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: DP

7-20823888-GGGGCGGGCGCA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20823888
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20823877
    reference: chr 7
allele count: 1
allele frequency: 2.192021043402017e-4
allele num: 4562
alternate allele: G
canonical: true
consequence: downstream gene
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 448
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3831
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 335
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25252
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1504
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3244
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 384
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21241
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 514
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 41
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3941
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 534
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 570
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 5.25e1
  variant carriers: 0
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 152
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4
  num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 50
  num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1196
  num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
reference allele: GGGGCGGGCGCA
site quality: FS
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

7-20823900-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20823900
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20823900
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 5382
alternate allele: C
canonical: true
consequence: downstream gene
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3872
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25699
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3596
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 210
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 311
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 483
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 380
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2732
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22914
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 867
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 455
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 9.75e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 126
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 60
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4
  num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 170
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ

7-20823916-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20823916
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20823916
    reference: chr 7
allele count: 1
allele frequency: 1.450536698578474e-4
allele num: 6894
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1520T>C
  hgvsp: ENSP00000408792.2:p.Leu507Pro
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1466T>C
  hgvsp: ENSP00000354482.4:p.Leu489Pro
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26082
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 66
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1828
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 390
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  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
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 266
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1788
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2272
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 268
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3231
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23799
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Leu507Pro
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6
  num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD

7-20823925-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20823925
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20823925
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 7826
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1511G>A
  hgvsp: ENSP00000408792.2:p.Arg504His
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1457G>A
  hgvsp: ENSP00000354482.4:p.Arg486His
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 126
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2370
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25879
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 251
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2656
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 289
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23587
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 308
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
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  bin: 6.25e1
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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: 13
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Arg504His
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 130
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum

7-20823926-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20823926
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20823926
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 8116
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1510C>T
  hgvsp: ENSP00000408792.2:p.Arg504Cys
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1456C>T
  hgvsp: ENSP00000354482.4:p.Arg486Cys
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3036
  bin: 7.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25917
  bin: 2.5e0
  variant carriers: 7
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
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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: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2560
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 336
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  variant carriers: 1
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 86
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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: 225
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genotype quality: GenotypeQuality
  all individuals: 7
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  variant carriers: 0
hgvs: p.Arg504Cys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 128
  num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: QD

7-20823931-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20823931
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20823931
    reference: chr 7
allele count: 1
allele frequency: 1.153136531365314e-4
allele num: 8672
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1505G>C
  hgvsp: ENSP00000408792.2:p.Gly502Ala
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1451G>C
  hgvsp: ENSP00000354482.4:p.Gly484Ala
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 148
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2830
  bin: 2.25e1
  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: 3.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 381
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2951
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly502Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 226
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: C
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD

7-20823932-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20823932
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20823932
    reference: chr 7
allele count: 1
allele frequency: 1.128413450688332e-4
allele num: 8862
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1450G>A
  hgvsp: ENSP00000354482.4:p.Gly484Arg
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1504G>A
  hgvsp: ENSP00000408792.2:p.Gly502Arg
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 464
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2951
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2641
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 731
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 25748
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 222
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2230
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23537
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 264
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2278
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 390
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3080
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 130
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Gly502Arg
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 76
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP

7-20823951-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20823951
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20823951
    reference: chr 7
allele count: 2
allele frequency: 1.917545541706615e-4
allele num: 10430
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1485G>A
  hgvsp: ENST00000418710.2:c.1485G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1431G>A
  hgvsp: ENST00000361443.4:c.1431G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25301
  bin: 2.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1789
  bin: 7.5e0
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 188
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4000
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1886
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1456
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23576
  bin: 7.5e0
  variant carriers: 8
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 1.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 541
  bin: 6.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 12
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Leu495Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: NaN
  allele num: 0
  num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ

7-20823972-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20823972
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20823972
    reference: chr 7
allele count: 141
allele frequency: 1.498405951115834e-2
allele num: 9410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1410G>C
  hgvsp: ENST00000361443.4:c.1410G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1464G>C
  hgvsp: ENST00000418710.2:c.1464G>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.95to100.00
genotype depth: GenotypeDepth
  all individuals: 82
  bin: 6.25e1
  variant carriers: 17
genotype depth: GenotypeDepth
  all individuals: 373
  bin: 3.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 5.75e1
  variant carriers: 18
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 9.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 991
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 208
  bin: 3.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 173
  bin: 1.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 894
  bin: 7.5e0
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 4.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 100
  bin: 5.25e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 2507
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 4.25e1
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 9
  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 20100
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 7.75e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 20
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 6.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 7.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 1.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 2.75e1
  variant carriers: 17
genotype quality: GenotypeQuality
  all individuals: 198
  bin: 4.25e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 194
  bin: 3.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 243
  bin: 5.25e1
  variant carriers: 14
genotype quality: GenotypeQuality
  all individuals: 6571
  bin: 2.5e0
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 14321
  bin: 7.5e0
  variant carriers: 10
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 8.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 2671
  bin: 6.25e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 202
  bin: 1.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 7.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 248
  bin: 1.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 8.75e1
  variant carriers: 7
genotype quality: GenotypeQuality
  all individuals: 212
  bin: 5.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 351
  bin: 2.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 7.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 209
  bin: 4.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 9.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 3.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.75e1
  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 334
  bin: 6.75e1
  variant carriers: 11
hgvs: p.Pro488Pro
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 25
  allele frequency: 1.057529610829103e-2
  allele num: 2364
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: South Asian
population: Latino
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

7-20823987-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20823987
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20823987
    reference: chr 7
allele count: 1
allele frequency: 9.439305267132339e-5
allele num: 10594
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1395C>T
  hgvsp: ENST00000361443.4:c.1395C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1449C>T
  hgvsp: ENST00000418710.2:c.1449C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21312
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 719
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2766
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 140
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17187
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3863
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 644
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 505
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4144
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Ser483Ser
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 130
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: VQSLOD

7-20824043-AGCC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824043
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824040
    reference: chr 7
allele count: 33
allele frequency: 2.886634009797061e-3
allele num: 11432
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1390_1392delGGC
  hgvsp: ENSP00000408792.2:p.Gly464del
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1336_1338delGGC
  hgvsp: ENSP00000354482.4:p.Gly446del
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 32297
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 2.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 6.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3619
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29528
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.75e1
  variant carriers: 22
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4068
  bin: 6.25e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly464del
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 126
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Latino
reference allele: AGCC
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: DP

7-20824043-A-AGCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824043
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824046
    reference: chr 7
allele count: 1
allele frequency: 8.74737578726382e-5
allele num: 11432
alternate allele: AGCC
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1336_1338dupGGC
  hgvsp: ENSP00000354482.4:p.Gly446dup
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1390_1392dupGGC
  hgvsp: ENSP00000408792.2:p.Gly464dup
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32297
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3619
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 4068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29528
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly464dup
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 408
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ

7-20824043-AGCCGCC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824043
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824037
    reference: chr 7
allele count: 3
allele frequency: 2.624212736179146e-4
allele num: 11432
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: inframe_deletion
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1387_1392delGGCGGC
  hgvsp: ENSP00000408792.2:p.Gly463_Gly464del
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: inframe_deletion
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1333_1338delGGCGGC
  hgvsp: ENSP00000354482.4:p.Gly445_Gly446del
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: inframe deletion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32297
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29528
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4068
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3619
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Gly463_Gly464del
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 2.450980392156863e-3
  allele num: 408
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: East Asian
reference allele: AGCCGCC
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum

7-20824043-AGCCGCCGCC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824043
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824034
    reference: chr 7
allele count: 4
allele frequency: 3.498950314905528e-4
allele num: 11432
alternate allele: A
canonical: false
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1819
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 19
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32297
  bin: 2.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 517
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2833
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3662
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 97
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 195
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 300
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4068
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 664
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29528
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3619
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 1.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 9.75e1
  variant carriers: 8
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 128
  num of homozygotes: 0
population: Other
  type: Population
  allele count: 1
  allele frequency: 7.936507936507936e-3
  allele num: 126
  num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 1
  allele frequency: 6.41025641025641e-3
  allele num: 156
  num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 18
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
reference allele: AGCCGCCGCC
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum

7-20824050-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824050
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824050
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 12256
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1386C>G
  hgvsp: ENST00000418710.2:c.1386C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1332C>G
  hgvsp: ENST00000361443.4:c.1332C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 113
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2893
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33501
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 445
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3671
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29949
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4344
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2684
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 817
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 158
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 874
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 722
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Gly462Gly
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 602
  num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP

7-20824062-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824062
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824062
    reference: chr 7
allele count: 2
allele frequency: 1.486988847583643e-4
allele num: 13450
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1374C>T
  hgvsp: ENST00000418710.2:c.1374C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1320C>T
  hgvsp: ENST00000361443.4:c.1320C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2090
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3313
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 578
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35669
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 600
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 181
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 766
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 22
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2052
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 163
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 205
  bin: 7.25e1
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genotype quality: GenotypeQuality
  all individuals: 33682
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 141
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 4804
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genotype quality: GenotypeQuality
  all individuals: 15
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 818
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly458Gly
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 274
  num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD

http://identifiers.org/exac.variant/7-20824063-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824063
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824063
    reference: chr 7
allele count: 1
allele frequency: 7.289692374981776e-5
allele num: 13718
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1319G>T
  hgvsp: ENSP00000354482.4:p.Gly440Val
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1373G>T
  hgvsp: ENSP00000408792.2:p.Gly458Val
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 577
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 592
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2089
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7973
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35765
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3394
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1551
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 165
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 64
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genotype quality: GenotypeQuality
  all individuals: 24
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genotype quality: GenotypeQuality
  all individuals: 764
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 160
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genotype quality: GenotypeQuality
  all individuals: 19
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genotype quality: GenotypeQuality
  all individuals: 4893
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 191
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genotype quality: GenotypeQuality
  all individuals: 34059
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6816
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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: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 70
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly458Val
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 1
  allele frequency: 1.300052002080083e-4
  allele num: 7692
  num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

7-20824113-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824113
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824113
    reference: chr 7
allele count: 1
allele frequency: 5.24714030853185e-5
allele num: 19058
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1323G>A
  hgvsp: ENST00000418710.2:c.1323G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1269G>A
  hgvsp: ENST00000361443.4:c.1269G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21824
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 200
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1182
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4992
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2456
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26994
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 602
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.25e1
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genotype quality: GenotypeQuality
  all individuals: 25941
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 453
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 6643
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2152
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 25
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 23
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Lys441Lys
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 570
  num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ

7-20824124-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824124
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824124
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 20178
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1312G>A
  hgvsp: ENSP00000408792.2:p.Val438Ile
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1258G>A
  hgvsp: ENSP00000354482.4:p.Val420Ile
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 94
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2485
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 336
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4952
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25527
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 608
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1696
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23277
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22486
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6560
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 611
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21134
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 998
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1938
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Val438Ile
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8196
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: C
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

7-20824126-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824126
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824126
    reference: chr 7
allele count: 1
allele frequency: 4.894283476898982e-5
allele num: 20432
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1310C>T
  hgvsp: ENSP00000408792.2:p.Pro437Leu
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1256C>T
  hgvsp: ENSP00000354482.4:p.Pro419Leu
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 26170
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22548
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1841
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4933
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 612
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2491
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 376
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 471
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3182
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 174
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 1167
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  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: 39
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 55
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 202
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 74
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genotype quality: GenotypeQuality
  all individuals: 239
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genotype quality: GenotypeQuality
  all individuals: 90
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genotype quality: GenotypeQuality
  all individuals: 6543
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 899
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro437Leu
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.199040767386091e-4
  allele num: 8340
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: African
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQ

7-20824128-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824128
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824128
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 20708
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1308T>C
  hgvsp: ENST00000418710.2:c.1308T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1254T>C
  hgvsp: ENST00000361443.4:c.1254T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 1936
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 413
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26541
  bin: 7.5e0
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 609
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 22119
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2514
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 694
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21297
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 6516
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genotype quality: GenotypeQuality
  all individuals: 25
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 241
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genotype quality: GenotypeQuality
  all individuals: 74
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 226
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genotype quality: GenotypeQuality
  all individuals: 905
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genotype quality: GenotypeQuality
  all individuals: 177
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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: 515
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Cys436Cys
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2366
  num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff

7-20824140-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824140
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824140
    reference: chr 7
allele count: 21
allele frequency: 8.892276422764227e-4
allele num: 23616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1242G>A
  hgvsp: ENST00000361443.4:c.1242G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1296G>A
  hgvsp: ENST00000418710.2:c.1296G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 31239
  bin: 7.5e0
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5034
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 93
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16614
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 7
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genotype depth: GenotypeDepth
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  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2538
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1098
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 173
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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: 23
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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: 25
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genotype quality: GenotypeQuality
  all individuals: 235
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 2625
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genotype quality: GenotypeQuality
  all individuals: 74
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  variant carriers: 21
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Lys432Lys
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 1
  allele frequency: 1.225490196078431e-3
  allele num: 816
  num of homozygotes: 0
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: FS

7-20824149-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824149
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824149
    reference: chr 7
allele count: 1
allele frequency: 3.754599384245701e-5
allele num: 26634
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1233C>T
  hgvsp: ENST00000361443.4:c.1233C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1287C>T
  hgvsp: ENST00000418710.2:c.1287C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4001
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1677
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11625
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 154
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 146
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1185
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32665
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 513
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7262
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1389
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 943
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 235
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Thr429Thr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1082
  num of homozygotes: 0
population: African
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum

7-20824155-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824155
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824155
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 29390
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1281C>G
  hgvsp: ENST00000418710.2:c.1281C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1227C>G
  hgvsp: ENST00000361443.4:c.1227C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2700
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9659
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 997
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 92
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35542
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5961
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4576
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 484
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 666
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 963
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1983
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 180
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 1609
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1409
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 220
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 232
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33651
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 204
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 7569
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Thr427Thr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1352
  num of homozygotes: 0
population: East Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-20824163-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824163
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824163
    reference: chr 7
allele count: 2
allele frequency: 5.917509911829102e-5
allele num: 33798
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1219C>T
  hgvsp: ENST00000361443.4:c.1219C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1273C>T
  hgvsp: ENST00000418710.2:c.1273C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7326
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 619
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2758
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1247
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5437
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34828
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8535
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 297
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 324
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genotype quality: GenotypeQuality
  all individuals: 23
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genotype quality: GenotypeQuality
  all individuals: 881
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1402
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 184
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genotype quality: GenotypeQuality
  all individuals: 1730
  bin: 3.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1889
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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: 7332
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 88
  bin: 5.75e1
  variant carriers: 1
hgvs: p.Leu425Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1040
  num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-20824167-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824167
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824167
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 35652
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1215G>A
  hgvsp: ENST00000361443.4:c.1215G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1269G>A
  hgvsp: ENST00000418710.2:c.1269G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 2813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35349
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6596
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 91
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7334
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 621
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1467
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 338
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1993
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1003
  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 186
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genotype quality: GenotypeQuality
  all individuals: 8771
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Arg423Arg
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1888
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: South Asian
population: European (Finnish)
reference allele: C
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum

7-20824176-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824176
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824176
    reference: chr 7
allele count: 5
allele frequency: 1.226452119309262e-4
allele num: 40768
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1260G>A
  hgvsp: ENST00000418710.2:c.1260G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1206G>A
  hgvsp: ENST00000361443.4:c.1206G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5139
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2934
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
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  variant carriers: 1
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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genotype depth: GenotypeDepth
  all individuals: 632
  bin: 3.25e1
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 3
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 40
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5157
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33225
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1953
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 461
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2202
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 9.75e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9563
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Glu420Glu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1400
  num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: MQ

7-20824179-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824179
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824179
    reference: chr 7
allele count: 1
allele frequency: 2.365184484389782e-5
allele num: 42280
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1257C>T
  hgvsp: ENST00000418710.2:c.1257C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1203C>T
  hgvsp: ENST00000361443.4:c.1203C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 4711
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6847
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2989
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34061
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 637
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2058
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8894
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 75
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2243
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4785
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 591
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 274
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 193
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1307
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1022
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 473
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9949
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32984
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 250
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp419Asp
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 326
  num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD

7-20824182-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824182
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824182
    reference: chr 7
allele count: 193
allele frequency: 4.257853865160607e-3
allele num: 45328
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1254C>T
  hgvsp: ENST00000418710.2:c.1254C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1200C>T
  hgvsp: ENST00000361443.4:c.1200C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 9.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 2113
  bin: 1.75e1
  variant carriers: 35
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3069
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 9982
  bin: 2.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 33135
  bin: 7.5e0
  variant carriers: 16
genotype depth: GenotypeDepth
  all individuals: 7110
  bin: 1.25e1
  variant carriers: 54
genotype depth: GenotypeDepth
  all individuals: 4129
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 634
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 7.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 59
  bin: 9.75e1
  variant carriers: 59
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 6.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2326
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32915
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 4212
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 357
  bin: 5.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2292
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 831
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 254
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 475
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 208
  bin: 9.75e1
  variant carriers: 183
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 7.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1346
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 27
  bin: 8.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1052
  bin: 6.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.25e1
  variant carriers: 1
hgvs: p.Ser418Ser
num of homozygotes: 2
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 4098
  num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: VQSLOD
site quality: DP

7-20824211-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824211
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824211
    reference: chr 7
allele count: 1
allele frequency: 1.440548560891988e-5
allele num: 69418
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1171C>G
  hgvsp: ENSP00000354482.4:p.Leu391Val
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1225C>G
  hgvsp: ENSP00000408792.2:p.Leu409Val
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3155
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 23912
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 90
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4402
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 742
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 19644
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  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2206
  bin: 2.75e1
  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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  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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  bin: 6.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 4.75e1
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 223
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Leu409Val
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5694
  num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

7-20824227-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824227
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824227
    reference: chr 7
allele count: 1
allele frequency: 1.243069885388957e-5
allele num: 80446
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1209C>T
  hgvsp: ENST00000418710.2:c.1209C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1155C>T
  hgvsp: ENST00000361443.4:c.1155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6342
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
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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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  bin: 7.75e1
  variant carriers: 0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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  variant carriers: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  variant carriers: 0
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: 25614
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Pro403Pro
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 582
  num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: DP

http://identifiers.org/exac.variant/7-20824239-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824239
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824239
    reference: chr 7
allele count: 2
allele frequency: 2.207261891623441e-5
allele num: 90610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1143G>T
  hgvsp: ENST00000361443.4:c.1143G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1197G>T
  hgvsp: ENST00000418710.2:c.1197G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7046
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5131
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 121
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1030
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2796
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29402
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1822
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15342
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 30
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 667
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genotype quality: GenotypeQuality
  all individuals: 2353
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31422
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 1037
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 1143
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1050
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 968
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 144
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1397
  bin: 3.75e1
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genotype quality: GenotypeQuality
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  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 1578
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 345
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Thr399Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 13528
  num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

7-20824257-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824257
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824257
    reference: chr 7
allele count: 2
allele frequency: 1.978669938067631e-5
allele num: 101078
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1125G>A
  hgvsp: ENST00000361443.4:c.1125G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1179G>A
  hgvsp: ENST00000418710.2:c.1179G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9399
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34463
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8885
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 932
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1786
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 122
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
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  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 531
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 225
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 25
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1076
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 924
  bin: 7.5e0
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genotype quality: GenotypeQuality
  all individuals: 809
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 135
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2941
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10348
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 1016
  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 38932
  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 113
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genotype quality: GenotypeQuality
  all individuals: 29
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genotype quality: GenotypeQuality
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  bin: 7.25e1
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genotype quality: GenotypeQuality
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  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 397
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 717
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala393Ala
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 9852
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: East Asian
population: European (Finnish)
population: South Asian
population: Other
reference allele: C
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD

7-20824272-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824272
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824272
    reference: chr 7
allele count: 1
allele frequency: 9.491268033409264e-6
allele num: 105360
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1164T>C
  hgvsp: ENST00000418710.2:c.1164T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1110T>C
  hgvsp: ENST00000361443.4:c.1110T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2953
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6737
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 106
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36631
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 995
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10465
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1336
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42736
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 378
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
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  variant carriers: 1
hgvs: p.Thr388Thr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7802
  num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
population: South Asian
reference allele: A
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: VQSLOD

7-20824279-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824279
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824279
    reference: chr 7
allele count: 1
allele frequency: 9.4459033117337e-6
allele num: 105866
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1103G>C
  hgvsp: ENSP00000354482.4:p.Gly368Ala
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1157G>C
  hgvsp: ENSP00000408792.2:p.Gly386Ala
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: missense
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10692
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2965
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36644
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 1120
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6311
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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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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 64
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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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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 42981
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 27
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genotype quality: GenotypeQuality
  all individuals: 3282
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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: 40
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genotype quality: GenotypeQuality
  all individuals: 404
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Gly386Ala
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 1
  allele frequency: 1.701143168209037e-5
  allele num: 58784
  num of homozygotes: 0
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD

7-20824280-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824280
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824280
    reference: chr 7
allele count: 1
allele frequency: 9.443762394938143e-6
allele num: 105890
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1156G>C
  hgvsp: ENSP00000408792.2:p.Gly386Arg
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1102G>C
  hgvsp: ENSP00000354482.4:p.Gly368Arg
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 36584
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2993
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6267
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10742
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1158
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1379
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1193
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 642
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7963
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 573
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42904
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 683
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 175
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1197
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 456
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 718
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 399
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 466
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3279
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 370
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 230
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Gly386Arg
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 7830
  num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: African
population: European (Finnish)
population: Latino
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

7-20824281-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824281
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824281
    reference: chr 7
allele count: 1
allele frequency: 9.44929508258684e-6
allele num: 105828
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1101C>T
  hgvsp: ENST00000361443.4:c.1101C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1155C>T
  hgvsp: ENST00000418710.2:c.1155C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6218
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1170
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3008
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 137
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1228
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10880
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 106
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 189
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 290
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 539
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 148
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 26
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1224
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 442
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 649
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3243
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 661
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 423
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 668
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 450
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42549
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Tyr385Tyr
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 8002
  num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: VQSLOD
site quality: DP

7-20824296-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824296
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824296
    reference: chr 7
allele count: 13
allele frequency: 1.239653659839036e-4
allele num: 104868
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1140C>A
  hgvsp: ENST00000418710.2:c.1140C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1086C>A
  hgvsp: ENST00000361443.4:c.1086C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 11309
  bin: 2.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1445
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 4.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34227
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6360
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1371
  bin: 3.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1466
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4014
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 8957
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 497
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41380
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 341
  bin: 4.75e1
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genotype quality: GenotypeQuality
  all individuals: 70
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 117
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 499
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1521
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 8.75e1
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genotype quality: GenotypeQuality
  all individuals: 210
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3265
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 359
  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 9.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 781
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 617
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Gly380Gly
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5116
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD

7-20824343-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824343
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824343
    reference: chr 7
allele count: 3
allele frequency: 3.912158990141359e-5
allele num: 76684
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1039G>A
  hgvsp: ENSP00000354482.4:p.Gly347Arg
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1093G>A
  hgvsp: ENSP00000408792.2:p.Gly365Arg
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4006
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 74
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15994
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 16621
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  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
  all individuals: 3542
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13219
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5277
  bin: 2.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 516
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 397
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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: 2.25e1
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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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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1405
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genotype quality: GenotypeQuality
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  bin: 2.75e1
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genotype quality: GenotypeQuality
  all individuals: 486
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genotype quality: GenotypeQuality
  all individuals: 15790
  bin: 6.25e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 1217
  bin: 6.75e1
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genotype quality: GenotypeQuality
  all individuals: 25
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Gly365Arg
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5160
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff

7-20824345-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824345
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824345
    reference: chr 7
allele count: 1
allele frequency: 1.350365949172226e-5
allele num: 74054
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1091C>T
  hgvsp: ENSP00000408792.2:p.Ala364Val
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1037C>T
  hgvsp: ENSP00000354482.4:p.Ala346Val
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 4.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype quality: GenotypeQuality
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  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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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 428
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 2299
  bin: 3.25e1
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genotype quality: GenotypeQuality
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  bin: 8.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 579
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genotype quality: GenotypeQuality
  all individuals: 492
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Ala364Val
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12172
  num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/7-20824346-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824346
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824346
    reference: chr 7
allele count: 1
allele frequency: 1.353106733059104e-5
allele num: 73904
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1036G>T
  hgvsp: ENSP00000354482.4:p.Ala346Ser
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1090G>T
  hgvsp: ENSP00000408792.2:p.Ala364Ser
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  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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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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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 quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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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: 55
  bin: 8.25e1
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hgvs: p.Ala364Ser
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 3048
  num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: African
population: Other
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: QD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP

7-20824346-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824346
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824346
    reference: chr 7
allele count: 1
allele frequency: 1.353106733059104e-5
allele num: 73904
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1090G>A
  hgvsp: ENSP00000408792.2:p.Ala364Thr
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1036G>A
  hgvsp: ENSP00000354482.4:p.Ala346Thr
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4303
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 533
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 28
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 7.5e0
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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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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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hgvs: p.Ala364Thr
num of homozygotes: 0
population: South Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 12152
  num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum

7-20824350-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824350
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824350
    reference: chr 7
allele count: 2
allele frequency: 2.814364516492176e-5
allele num: 71064
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1032C>A
  hgvsp: ENST00000361443.4:c.1032C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1086C>A
  hgvsp: ENST00000418710.2:c.1086C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 27
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 502
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genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  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 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: 338
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  variant carriers: 0
hgvs: p.Gly362Gly
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6780
  num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

7-20824355-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824355
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824355
    reference: chr 7
allele count: 1
allele frequency: 1.486016583945077e-5
allele num: 67294
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.1027C>A
  hgvsp: ENSP00000354482.4:p.Leu343Met
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1081C>A
  hgvsp: ENSP00000408792.2:p.Leu361Met
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 8596
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
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genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.25e1
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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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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 457
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3304
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 350
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2555
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5658
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 365
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 429
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 939
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 421
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32846
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 460
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2199
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 913
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1148
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10017
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Leu361Met
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 5142
  num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: ReadPosRankSum

7-20824389-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824389
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824389
    reference: chr 7
allele count: 3
allele frequency: 9.399085155711511e-5
allele num: 31918
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1047C>G
  hgvsp: ENST00000418710.2:c.1047C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.993C>G
  hgvsp: ENST00000361443.4:c.993C>G(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 20934
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 18826
  bin: 7.5e0
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1718
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10615
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 281
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1215
  bin: 1.25e1
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genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 1087
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genotype quality: GenotypeQuality
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  bin: 4.25e1
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genotype quality: GenotypeQuality
  all individuals: 1701
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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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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
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genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 7.75e1
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genotype quality: GenotypeQuality
  all individuals: 53
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.75e1
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genotype quality: GenotypeQuality
  all individuals: 22436
  bin: 7.5e0
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 26
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 152
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Thr349Thr
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 1948
  num of homozygotes: 0
population: Other
population: African
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: ClippingRankSum
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

7-20824395-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824395
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824395
    reference: chr 7
allele count: 2
allele frequency: 7.904513477195479e-5
allele num: 25302
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1041C>T
  hgvsp: ENST00000418710.2:c.1041C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.987C>T
  hgvsp: ENST00000361443.4:c.987C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 695
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1690
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2436
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7763
  bin: 1.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24431
  bin: 2.5e0
  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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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 598
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 5.25e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 888
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 212
  bin: 3.75e1
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genotype quality: GenotypeQuality
  all individuals: 1373
  bin: 1.25e1
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genotype quality: GenotypeQuality
  all individuals: 1075
  bin: 2.5e0
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genotype quality: GenotypeQuality
  all individuals: 25691
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 52
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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: 18630
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genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg347Arg
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 212
  num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: QD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD

7-20824401-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824401
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824401
    reference: chr 7
allele count: 1
allele frequency: 5.181884133070784e-5
allele num: 19298
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1035C>T
  hgvsp: ENST00000418710.2:c.1035C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.981C>T
  hgvsp: ENST00000361443.4:c.981C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2319
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5021
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 27545
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1703
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
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genotype depth: GenotypeDepth
  all individuals: 15159
  bin: 7.5e0
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
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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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  bin: 7.75e1
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genotype depth: GenotypeDepth
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  bin: 5.25e1
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genotype depth: GenotypeDepth
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  bin: 9.75e1
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genotype quality: GenotypeQuality
  all individuals: 647
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 154
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3403
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Ser345Ser
num of homozygotes: 0
population: Other
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 178
  num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD

7-20824409-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824409
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824409
    reference: chr 7
allele count: 1
allele frequency: 6.435834727764191e-5
allele num: 15538
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1027C>T
  hgvsp: ENSP00000408792.2:p.Arg343Cys
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.973C>T
  hgvsp: ENSP00000354482.4:p.Arg325Cys
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
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  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
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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: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1743
  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1325
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1465
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 306
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10510
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 576
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 492
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.75e1
  variant carriers: 1
hgvs: p.Arg343Cys
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 758
  num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: Other
population: South Asian
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

7-20824410-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824410
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824410
    reference: chr 7
allele count: 1
allele frequency: 6.447453255963895e-5
allele num: 15510
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.972C>A
  hgvsp: ENST00000361443.4:c.972C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1026C>A
  hgvsp: ENST00000418710.2:c.1026C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1711
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 12632
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2293
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29453
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1315
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.5e0
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genotype quality: GenotypeQuality
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  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10686
  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 56
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 292
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 577
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 156
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Arg342Arg
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 764
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
population: South Asian
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-20824415-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824415
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824415
    reference: chr 7
allele count: 1
allele frequency: 7.185972980741592e-5
allele num: 13916
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.967G>T
  hgvsp: ENSP00000354482.4:p.Ala323Ser
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1021G>T
  hgvsp: ENSP00000408792.2:p.Ala341Ser
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10769
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 347
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1695
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29604
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 26
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 365
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2335
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2268
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 238
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 153
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 45
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8296
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29271
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2032
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1318
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 5.25e1
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genotype quality: GenotypeQuality
  all individuals: 107
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1354
  bin: 1.75e1
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genotype quality: GenotypeQuality
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  bin: 6.25e1
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genotype quality: GenotypeQuality
  all individuals: 24
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genotype quality: GenotypeQuality
  all individuals: 21
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 52
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 572
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Ala341Ser
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 334
  num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: European (Finnish)
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD

7-20824427-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824427
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824427
    reference: chr 7
allele count: 3
allele frequency: 2.514247401944351e-4
allele num: 11932
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.1009C>G
  hgvsp: ENSP00000408792.2:p.Pro337Ala
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.955C>G
  hgvsp: ENSP00000354482.4:p.Pro319Ala
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1664
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8119
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1331
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  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29517
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
  all individuals: 351
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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: 1
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
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  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2453
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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3315
  bin: 6.25e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
  all individuals: 28196
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 569
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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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  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
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  variant carriers: 0
hgvs: p.Pro337Ala
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 396
  num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: Other
population: European (Finnish)
population: East Asian
reference allele: G
site quality: DP
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD

http://identifiers.org/exac.variant/7-20824437-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824437
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824437
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 11034
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.999G>T
  hgvsp: ENST00000418710.2:c.999G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.945G>T
  hgvsp: ENST00000361443.4:c.945G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2091
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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genotype depth: GenotypeDepth
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  variant carriers: 0
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genotype depth: GenotypeDepth
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  bin: 3.25e1
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genotype depth: GenotypeDepth
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 112
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 549
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Leu333Leu
num of homozygotes: 0
population: Latino
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 160
  num of homozygotes: 0
population: African
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: QD

7-20824445-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824445
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824445
    reference: chr 7
allele count: 1
allele frequency: 9.412650602409639e-5
allele num: 10624
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.991G>A
  hgvsp: ENSP00000408792.2:p.Ala331Thr
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.937G>A
  hgvsp: ENSP00000354482.4:p.Ala313Thr
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2122
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 29211
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 699
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5097
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 69
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 359
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3172
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 919
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4067
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3051
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25536
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 558
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1194
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 200
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 217
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 94
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala331Thr
num of homozygotes: 0
population: African
  type: Population
  allele count: 1
  allele frequency: 3.787878787878788e-3
  allele num: 264
  num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum

7-20824457-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824457
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824457
    reference: chr 7
allele count: 2
allele frequency: 1.919754271453254e-4
allele num: 10418
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.979G>A
  hgvsp: ENSP00000408792.2:p.Ala327Thr
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.925G>A
  hgvsp: ENSP00000354482.4:p.Ala309Thr
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 397
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2125
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4460
  bin: 7.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 30685
  bin: 2.5e0
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1657
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 368
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 680
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 215
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27413
  bin: 7.5e0
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3547
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 547
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 3235
  bin: 6.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 206
  bin: 2.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1135
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 8.25e1
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genotype quality: GenotypeQuality
  all individuals: 137
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2753
  bin: 2.25e1
  variant carriers: 2
hgvs: p.Ala327Thr
num of homozygotes: 0
population: East Asian
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 188
  num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

7-20824477-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824477
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824477
    reference: chr 7
allele count: 1
allele frequency: 9.68429207824908e-5
allele num: 10326
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.959C>G
  hgvsp: ENSP00000408792.2:p.Ala320Gly
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.905C>G
  hgvsp: ENSP00000354482.4:p.Ala302Gly
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1743
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 362
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1984
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 513
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 488
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32883
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 70
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4450
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 100
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4443
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28519
  bin: 7.5e0
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genotype quality: GenotypeQuality
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  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 171
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 192
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1319
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2783
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
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genotype quality: GenotypeQuality
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  bin: 2.25e1
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genotype quality: GenotypeQuality
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  bin: 5.75e1
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genotype quality: GenotypeQuality
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genotype quality: GenotypeQuality
  all individuals: 133
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genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ala320Gly
num of homozygotes: 0
population: European (Non-Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 2616
  num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

7-20824481-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824481
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824481
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 10334
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.955G>A
  hgvsp: ENSP00000408792.2:p.Gly319Ser
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.901G>A
  hgvsp: ENSP00000354482.4:p.Gly301Ser
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: missense
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 366
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4812
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 460
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33700
  bin: 2.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 501
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1761
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  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: 0
genotype depth: GenotypeDepth
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  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
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  bin: 9.25e1
  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 quality: GenotypeQuality
  all individuals: 218
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4036
  bin: 2.5e0
  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
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  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
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  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1278
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1030
  bin: 1.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 96
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 517
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 120
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 9.75e1
  variant carriers: 0
hgvs: p.Gly319Ser
num of homozygotes: 0
population: African
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 214
  num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff

7-20824485-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824485
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824485
    reference: chr 7
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.951G>A
  hgvsp: ENST00000418710.2:c.951G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.897G>A
  hgvsp: ENST00000361443.4:c.897G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 466
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1813
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 380
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5320
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2110
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34389
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 68
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3142
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1259
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 66
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 196
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 199
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 136
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 904
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3443
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31233
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 540
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 99
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3269
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu317Leu
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 10
  num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum

http://identifiers.org/exac.variant/7-20824491-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 20824491
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 20824491
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 10448
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000408792
  ensembl transcript: ENST00000418710
  gene symbol: SP8
  hgvsc: ENST00000418710.2:c.945G>T
  hgvsp: ENST00000418710.2:c.945G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000164651
  ensembl protein: ENSP00000354482
  ensembl transcript: ENST00000361443
  gene symbol: SP8
  hgvsc: ENST00000361443.4:c.891G>T
  hgvsp: ENST00000361443.4:c.891G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/19196
canonical: true
consequence: synonymous
filter: AC_Adj0_Filter
genotype depth: GenotypeDepth
  all individuals: 450
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 271
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 372
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Ser315Ser
num of homozygotes: 0
reference allele: C

GenotypeQuality
all individuals: 563
bin: 9.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 33
allele frequency: 2.867072111207646e-3
allele num: 11510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.530900743067722e-5
allele num: 66212
num of homozygotes: 0

Other
type: Population
allele count: 3
allele frequency: 3.348214285714286e-3
allele num: 896
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.221597849987784e-4
allele num: 16372
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10342
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.69e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: 2.85e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.32e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.54e-1

QD
type: SiteQuality
SIO_000300: 1.543e1

DP
type: SiteQuality
SIO_000300: 1.559828e6

FS
type: SiteQuality
SIO_000300: 5.81e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

GenotypeQuality
all individuals: 1409
bin: 7.75e1
variant carriers: 0

Other
type: Population
allele count: 3
allele frequency: 3.355704697986577e-3
allele num: 894
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 16
allele frequency: 2.432350258437215e-3
allele num: 6578
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 27
allele frequency: 4.086080087169709e-4
allele num: 66078
num of homozygotes: 1

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

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

MQRankSum
type: SiteQuality
SIO_000300: -4.5e-2

MQ
type: SiteQuality
SIO_000300: 5.965e1

VQSLOD
type: SiteQuality
SIO_000300: 3.53e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.95e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.82e-2

DP
type: SiteQuality
SIO_000300: 1.555679e6

QD
type: SiteQuality
SIO_000300: 1.419e1

FS
type: SiteQuality
SIO_000300: 6.04e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.03e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

GenotypeQuality
all individuals: 5267
bin: 6.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65998
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: 8614
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11474
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.137981831573779e-5
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

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 4.41e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.08e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 1.552269e6

MQRankSum
type: SiteQuality
SIO_000300: -1.11e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.435e1

GenotypeQuality
all individuals: 259
bin: 2.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16280
num of homozygotes: 0

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

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

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

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

Latino
type: Population
allele count: 4
allele frequency: 3.487358326068004e-4
allele num: 11470
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65980
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.345e0

VQSLOD
type: SiteQuality
SIO_000300: 8.99e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.94e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.97e-1

FS
type: SiteQuality
SIO_000300: 4.703e0

MQRankSum
type: SiteQuality
SIO_000300: 6.22e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.551196e6

QD
type: SiteQuality
SIO_000300: 1.453e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11430
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65664
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.58e0

FS
type: SiteQuality
SIO_000300: 1.482e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.54e-1

QD
type: SiteQuality
SIO_000300: 1.69e1

DP
type: SiteQuality
SIO_000300: 1.537809e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.657e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -7.944e-1

MQ
type: SiteQuality
SIO_000300: 5.949e1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11424
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.096358682189745e-4
allele num: 16148
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10266
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65586
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 2.89e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.54e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

QD
type: SiteQuality
SIO_000300: 1.209e1

FS
type: SiteQuality
SIO_000300: 3.894e0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.57e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

DP
type: SiteQuality
SIO_000300: 1.535551e6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16128
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6540
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.525599560627327e-5
allele num: 65548
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11418
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 1.533555e6

FS
type: SiteQuality
SIO_000300: 3.905e0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.469e0

QD
type: SiteQuality
SIO_000300: 1.312e1

VQSLOD
type: SiteQuality
SIO_000300: 7.55e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -1.26e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.176e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.63e0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15932
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10188
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6514
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.17343346632246e-4
allele num: 8522
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 4.35e1

VQSLOD
type: SiteQuality
SIO_000300: -1.567e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.393e0

MQRankSum
type: SiteQuality
SIO_000300: -6.96e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.49e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.061e0

DP
type: SiteQuality
SIO_000300: 1.495504e6

QD
type: SiteQuality
SIO_000300: 1.27e0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64476
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10120
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6482
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: 4
allele frequency: 4.716981132075472e-4
allele num: 8480
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -3.608e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.2e-3

FS
type: SiteQuality
SIO_000300: 9.602e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.69e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.16e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.53e-1

QD
type: SiteQuality
SIO_000300: 1.467e1

MQRankSum
type: SiteQuality
SIO_000300: 8.110000000000001e-1

DP
type: SiteQuality
SIO_000300: 1.45333e6

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15726
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.659253277008138e-5
allele num: 64388
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.893153937475267e-5
allele num: 10108
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8474
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6484
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.443088e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.13e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.5e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.408e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 4.0e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.91e0

MQ
type: SiteQuality
SIO_000300: 5.942e1

VQSLOD
type: SiteQuality
SIO_000300: 1.81e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10052
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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Latino
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South Asian
type: Population
allele count: 2
allele frequency: 1.286008230452675e-4
allele num: 15552
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.563330519338399e-5
allele num: 63966
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Other
type: Population
allele count: 0
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allele num: 880
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VQSLOD
type: SiteQuality
SIO_000300: 2.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e-1

QD
type: SiteQuality
SIO_000300: 1.654e1

MQRankSum
type: SiteQuality
SIO_000300: 6.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.96e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 4.695e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.78e-1

DP
type: SiteQuality
SIO_000300: 1.365571e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

African
type: Population
allele count: 0
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allele num: 10012
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East Asian
type: Population
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allele frequency: 0.0e0
allele num: 8396
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Latino
type: Population
allele count: 1
allele frequency: 8.919015340706386e-5
allele num: 11212
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 876
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6436
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63708
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VQSLOD
type: SiteQuality
SIO_000300: -2.555e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.445e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.5e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.52e-1

MQ
type: SiteQuality
SIO_000300: 5.855e1

QD
type: SiteQuality
SIO_000300: 4.07e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.54e-1

DP
type: SiteQuality
SIO_000300: 1.344641e6

MQRankSum
type: SiteQuality
SIO_000300: 1.4e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9906
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South Asian
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allele frequency: 1.322751322751323e-4
allele num: 15120
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Latino
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8328
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62878
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
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ClippingRankSum
type: SiteQuality
SIO_000300: 6.1e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.05e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.97e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.74e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

MQ
type: SiteQuality
SIO_000300: 5.871e1

DP
type: SiteQuality
SIO_000300: 1.237444e6

QD
type: SiteQuality
SIO_000300: 7.15e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.05e-1

African
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allele count: 0
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allele num: 9750
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South Asian
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Latino
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allele frequency: 0.0e0
allele num: 10982
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European (Non-Finnish)
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allele count: 1
allele frequency: 1.620640477116556e-5
allele num: 61704
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 6370
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 842
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VQSLOD
type: SiteQuality
SIO_000300: 3.6e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -9.07e-1

QD
type: SiteQuality
SIO_000300: 1.134e1

FS
type: SiteQuality
SIO_000300: 8.526e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

MQRankSum
type: SiteQuality
SIO_000300: 7.33e-1

DP
type: SiteQuality
SIO_000300: 1.208976e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.6e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.37e-1

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 10950
num of homozygotes: 0

European (Finnish)
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allele frequency: 0.0e0
allele num: 6380
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East Asian
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 9718
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South Asian
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allele frequency: 0.0e0
allele num: 14692
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.625593341569673e-5
allele num: 61516
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InbreedingCoeff
type: SiteQuality
SIO_000300: -2.5e-3

VQSLOD
type: SiteQuality
SIO_000300: 2.61e0

MQRankSum
type: SiteQuality
SIO_000300: -1.54e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.1e-2

DP
type: SiteQuality
SIO_000300: 1.206443e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.82e0

QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.46e-1

East Asian
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allele num: 8016
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European (Non-Finnish)
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allele frequency: 1.634788294915808e-5
allele num: 61170
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Latino
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allele frequency: 0.0e0
allele num: 10892
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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African
type: Population
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FS
type: SiteQuality
SIO_000300: 2.257e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.71e0

QD
type: SiteQuality
SIO_000300: 1.448e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.54e-1

VQSLOD
type: SiteQuality
SIO_000300: 8.41e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.42e-1

DP
type: SiteQuality
SIO_000300: 1.203283e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.65e-1

South Asian
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allele frequency: 1.305483028720627e-4
allele num: 7660
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Latino
type: Population
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allele frequency: 0.0e0
allele num: 290
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 902
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
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FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.62556e5

QD
type: SiteQuality
SIO_000300: 9.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.8e-2

MQ
type: SiteQuality
SIO_000300: 5.911e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.75e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.5e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.62e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.3e-2

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 30
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 154
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 902
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5060
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ReadPosRankSum
type: SiteQuality
SIO_000300: -1.19e-1

MQ
type: SiteQuality
SIO_000300: 6.022e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.71e-2

DP
type: SiteQuality
SIO_000300: 2.63778e5

BaseQRankSum
type: SiteQuality
SIO_000300: 4.71e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.91e0

MQRankSum
type: SiteQuality
SIO_000300: -7.94e-1

QD
type: SiteQuality
SIO_000300: 9.699999999999999e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.28e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2440
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1084
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 42
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.605e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.21e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.93e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 4.21e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.37e0

QD
type: SiteQuality
SIO_000300: 6.12e0

DP
type: SiteQuality
SIO_000300: 1.08185e5

BaseQRankSum
type: SiteQuality
SIO_000300: -1.638e0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 44
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1070
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ReadPosRankSum
type: SiteQuality
SIO_000300: -4.95e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.711e0

QD
type: SiteQuality
SIO_000300: 9.58e0

ClippingRankSum
type: SiteQuality
SIO_000300: 5.29e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.054e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.93e-1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -9.75e-2

DP
type: SiteQuality
SIO_000300: 1.08389e5

Other
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
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South Asian
type: Population
allele count: 1
allele frequency: 3.342245989304813e-4
allele num: 2992
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 1.16895e5

MQ
type: SiteQuality
SIO_000300: 5.42e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.17e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.615e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -9.180000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e-1

VQSLOD
type: SiteQuality
SIO_000300: -2.133e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.92e-1

QD
type: SiteQuality
SIO_000300: 2.6e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 46
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3606
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1370
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 1.29164e5

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.840000000000001e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 192
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 1
allele frequency: 2.140410958904109e-4
allele num: 4672
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1760
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 74
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MQRankSum
type: SiteQuality
SIO_000300: 6.43e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.76e-1

QD
type: SiteQuality
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FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.799999999999999e-2

BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 1.48443e5

VQSLOD
type: SiteQuality
SIO_000300: -5.424e-1

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5332
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 64
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1998
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 4
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 210
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Other
type: Population
allele count: 0
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FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
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DP
type: SiteQuality
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VQSLOD
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.840000000000001e-2

MQ
type: SiteQuality
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QD
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
SIO_000300: 1.98e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.067e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.98e-1

African
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allele count: 0
allele frequency: 0.0e0
allele num: 216
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Other
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Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 70
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 2080
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 5528
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
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VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: 4.06e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.2e-1

FS
type: SiteQuality
SIO_000300: 1.093e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.599999999999999e-2

DP
type: SiteQuality
SIO_000300: 1.62322e5

QD
type: SiteQuality
SIO_000300: 1.345e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4
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South Asian
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allele frequency: 1.688618709895306e-4
allele num: 5922
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 74
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2214
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
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allele num: 98
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MQRankSum
type: SiteQuality
SIO_000300: 9.0e-1

DP
type: SiteQuality
SIO_000300: 1.67856e5

FS
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.6e-2

ClippingRankSum
type: SiteQuality
SIO_000300: -7.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.89e-1

InbreedingCoeff
type: SiteQuality
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VQSLOD
type: SiteQuality
SIO_000300: -1.924e0

QD
type: SiteQuality
SIO_000300: 8.470000000000001e0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2
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South Asian
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allele frequency: 1.652346331791143e-4
allele num: 6052
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African
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2268
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 136
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QD
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -1.673e0

MQRankSum
type: SiteQuality
SIO_000300: 1.22e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.78e-2

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.919e1

ReadPosRankSum
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 1.7029e5

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 100
num of homozygotes: 0

East Asian
type: Population
allele count: 0
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African
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South Asian
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allele frequency: 1.395478649176668e-4
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Other
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European (Non-Finnish)
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allele frequency: 3.776435045317221e-4
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.026e0

DP
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SIO_000300: 1.85996e5

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

ClippingRankSum
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QD
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InbreedingCoeff
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SIO_000300: -8.43e-2

FS
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

East Asian
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allele frequency: 0.0e0
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European (Finnish)
type: Population
allele count: 0
allele frequency: NaN
allele num: 0
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African
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allele frequency: 3.883495145631068e-2
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South Asian
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allele count: 102
allele frequency: 1.564897207732433e-2
allele num: 6518
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Latino
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allele frequency: 5.952380952380952e-2
allele num: 84
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Other
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ClippingRankSum
type: SiteQuality
SIO_000300: 3.71e0

MQ
type: SiteQuality
SIO_000300: 5.851e1

FS
type: SiteQuality
SIO_000300: 1.95422e2

VQSLOD
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QD
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InbreedingCoeff
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SIO_000300: -1.158e-1

DP
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MQRankSum
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.617e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.523e0

European (Finnish)
type: Population
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allele frequency: NaN
allele num: 0
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Latino
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Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 2658
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African
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South Asian
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ReadPosRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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QD
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FS
type: SiteQuality
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: -8.98e-2

MQ
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SIO_000300: 5.935e1

DP
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VQSLOD
type: SiteQuality
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South Asian
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allele frequency: 1.878690284487386e-3
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East Asian
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European (Non-Finnish)
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allele frequency: 5.725190839694656e-3
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African
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allele frequency: 2.450980392156863e-3
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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MQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

FS
type: SiteQuality
SIO_000300: 1.085e0

MQ
type: SiteQuality
SIO_000300: 5.9e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.194e-1

VQSLOD
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QD
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SIO_000300: 4.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

DP
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SIO_000300: 2.46434e5

South Asian
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allele frequency: 1.341921631776704e-4
allele num: 7452
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East Asian
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3144
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Other
type: Population
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 128
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European (Finnish)
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allele frequency: 0.0e0
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.194e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

FS
type: SiteQuality
SIO_000300: 1.085e0

VQSLOD
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SIO_000300: 2.51e0

QD
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MQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

DP
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

MQ
type: SiteQuality
SIO_000300: 5.9e1

European (Non-Finnish)
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allele count: 2
allele frequency: 6.361323155216285e-4
allele num: 3144
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Other
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South Asian
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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VQSLOD
type: SiteQuality
SIO_000300: 2.51e0

QD
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MQ
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SIO_000300: 5.9e1

DP
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MQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.194e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

FS
type: SiteQuality
SIO_000300: 1.085e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

European (Non-Finnish)
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allele frequency: 6.361323155216285e-4
allele num: 3144
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South Asian
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African
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MQRankSum
type: SiteQuality
SIO_000300: -3.01e-1

MQ
type: SiteQuality
SIO_000300: 5.9e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.59e-1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: 3.194e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.2e-2

QD
type: SiteQuality
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VQSLOD
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SIO_000300: 2.51e0

DP
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SIO_000300: 2.46434e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.18e-1

South Asian
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allele count: 0
allele frequency: 0.0e0
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Other
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allele frequency: 0.0e0
allele num: 130
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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East Asian
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allele frequency: 0.0e0
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Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 170
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3548
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VQSLOD
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.53e-2

QD
type: SiteQuality
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DP
type: SiteQuality
SIO_000300: 2.5225e5

South Asian
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allele frequency: 2.609603340292275e-4
allele num: 7664
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European (Finnish)
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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Other
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BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 2.95158e5

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.83e-2

MQRankSum
type: SiteQuality
SIO_000300: -5.4e-1

FS
type: SiteQuality
SIO_000300: 1.8945e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.46e-1

ClippingRankSum
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QD
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VQSLOD
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SIO_000300: -1.579e0

European (Non-Finnish)
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allele frequency: 0.0e0
allele num: 4396
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Other
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allele frequency: 0.0e0
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African
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allele frequency: 0.0e0
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Latino
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allele frequency: 0.0e0
allele num: 232
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European (Finnish)
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allele frequency: 0.0e0
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East Asian
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BaseQRankSum
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SIO_000300: -2.127e0

VQSLOD
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MQ
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QD
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DP
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InbreedingCoeff
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SIO_000300: -7.6e-2

ReadPosRankSum
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MQRankSum
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ClippingRankSum
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FS
type: SiteQuality
SIO_000300: 2.8004e1

African
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allele frequency: 0.0e0
allele num: 2194
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Latino
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allele frequency: 0.0e0
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European (Finnish)
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 1.26008064516129e-4
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Other
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FS
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VQSLOD
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DP
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QD
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InbreedingCoeff
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SIO_000300: -5.06e-2

MQRankSum
type: SiteQuality
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
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BaseQRankSum
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SIO_000300: -7.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

Latino
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East Asian
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allele frequency: 0.0e0
allele num: 638
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European (Finnish)
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allele frequency: 0.0e0
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African
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Other
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South Asian
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MQRankSum
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QD
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SIO_000300: 1.511e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.78e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.7e-2

MQ
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FS
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.44e-2

DP
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ReadPosRankSum
type: SiteQuality
SIO_000300: 6.7e-2

VQSLOD
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Latino
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allele frequency: 0.0e0
allele num: 586
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European (Finnish)
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allele frequency: 0.0e0
allele num: 290
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South Asian
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East Asian
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African
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Other
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VQSLOD
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FS
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ReadPosRankSum
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BaseQRankSum
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DP
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MQRankSum
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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QD
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MQ
type: SiteQuality
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East Asian
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Other
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European (Finnish)
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 8526
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Latino
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allele num: 600
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South Asian
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BaseQRankSum
type: SiteQuality
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MQRankSum
type: SiteQuality
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QD
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VQSLOD
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ClippingRankSum
type: SiteQuality
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ReadPosRankSum
type: SiteQuality
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DP
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FS
type: SiteQuality
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MQ
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -4.29e-2

African
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allele frequency: 0.0e0
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East Asian
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European (Non-Finnish)
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allele num: 10306
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
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Other
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South Asian
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BaseQRankSum
type: SiteQuality
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VQSLOD
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MQ
type: SiteQuality
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QD
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MQRankSum
type: SiteQuality
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InbreedingCoeff
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ClippingRankSum
type: SiteQuality
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DP
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SIO_000300: 5.15388e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.43e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

African
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allele frequency: 0.0e0
allele num: 2834
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European (Finnish)
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allele frequency: 0.0e0
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South Asian
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 1
allele frequency: 8.227743952608195e-5
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Other
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East Asian
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DP
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MQ
type: SiteQuality
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ClippingRankSum
type: SiteQuality
SIO_000300: -6.73e-1

QD
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ReadPosRankSum
type: SiteQuality
SIO_000300: 5.8e-1

MQRankSum
type: SiteQuality
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InbreedingCoeff
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FS
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VQSLOD
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.05e-1

East Asian
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African
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allele count: 0
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 240
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13832
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 796
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8692
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 5.8299e5

QD
type: SiteQuality
SIO_000300: 7.33e0

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -7.685e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.61e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.65e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.652e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9024
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 5.787037037037037e-4
allele num: 1728
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 6.019744762822056e-5
allele num: 16612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3330
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1780
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 284
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MQRankSum
type: SiteQuality
SIO_000300: -4.8e-1

MQ
type: SiteQuality
SIO_000300: 5.84e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.963e0

DP
type: SiteQuality
SIO_000300: 6.17421e5

FS
type: SiteQuality
SIO_000300: 2.56e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e-1

QD
type: SiteQuality
SIO_000300: 3.459e1

VQSLOD
type: SiteQuality
SIO_000300: -3.179e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.89e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.69e-2

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 17800
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1928
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 286
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3472
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9126
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1152
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FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: -2.401e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.64e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.92e0

DP
type: SiteQuality
SIO_000300: 6.32141e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.56e-1

QD
type: SiteQuality
SIO_000300: 1.061e1

MQ
type: SiteQuality
SIO_000300: 5.79e1

MQRankSum
type: SiteQuality
SIO_000300: -1.221e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3818
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 5.21702838063439e-4
allele num: 9584
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2354
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 20908
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2384
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 320
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VQSLOD
type: SiteQuality
SIO_000300: 2.41e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.3e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.82e-1

DP
type: SiteQuality
SIO_000300: 6.66357e5

BaseQRankSum
type: SiteQuality
SIO_000300: -4.197e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.4e-2

FS
type: SiteQuality
SIO_000300: 1.972e0

MQRankSum
type: SiteQuality
SIO_000300: 3.22e-1

QD
type: SiteQuality
SIO_000300: 1.304e1

MQ
type: SiteQuality
SIO_000300: 5.971e1

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2536
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3892
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2494
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.030290541932825e-4
allele num: 9706
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1452
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 21874
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ClippingRankSum
type: SiteQuality
SIO_000300: -7.099999999999999e-2

MQ
type: SiteQuality
SIO_000300: 5.866e1

MQRankSum
type: SiteQuality
SIO_000300: 1.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.36e-1

QD
type: SiteQuality
SIO_000300: 3.06e0

FS
type: SiteQuality
SIO_000300: 5.441e0

DP
type: SiteQuality
SIO_000300: 6.78782e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.25e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.19e0

VQSLOD
type: SiteQuality
SIO_000300: -2.85e0

South Asian
type: Population
allele count: 176
allele frequency: 1.742919389978214e-2
allele num: 10098
num of homozygotes: 2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2696
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European (Non-Finnish)
type: Population
allele count: 12
allele frequency: 5.077860528097495e-4
allele num: 23632
num of homozygotes: 0

Latino
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allele count: 5
allele frequency: 1.745810055865922e-3
allele num: 2864
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 1590
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 350
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.98e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.08e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.12e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.14e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.53e-1

FS
type: SiteQuality
SIO_000300: 5.51e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.429e1

VQSLOD
type: SiteQuality
SIO_000300: 3.95e0

DP
type: SiteQuality
SIO_000300: 7.08897e5

Latino
type: Population
allele count: 1
allele frequency: 1.795332136445242e-4
allele num: 5570
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11916
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38264
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2802
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4658
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 514
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.1e-3

QD
type: SiteQuality
SIO_000300: 1.042e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.209e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.214e0

MQ
type: SiteQuality
SIO_000300: 5.883e1

VQSLOD
type: SiteQuality
SIO_000300: -1.326e-1

DP
type: SiteQuality
SIO_000300: 8.90337e5

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6430
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3378
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5642
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7082
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.244568145088885e-5
allele num: 44552
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12780
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ReadPosRankSum
type: SiteQuality
SIO_000300: -3.2e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.75e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.5e-3

VQSLOD
type: SiteQuality
SIO_000300: -5.918e-1

MQRankSum
type: SiteQuality
SIO_000300: 8.88e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.88e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.46e-1

DP
type: SiteQuality
SIO_000300: 9.82441e5

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7074
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6612
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8438
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3996
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.975194784544442e-5
allele num: 50312
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 650
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QD
type: SiteQuality
SIO_000300: 1.286e1

FS
type: SiteQuality
SIO_000300: 2.133e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.7e-3

MQRankSum
type: SiteQuality
SIO_000300: -5.98e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.016e0

DP
type: SiteQuality
SIO_000300: 1.083357e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.89e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.669999999999999e-1

MQ
type: SiteQuality
SIO_000300: 5.863e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.669e0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.563156957063959e-5
allele num: 56130
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7514
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4700
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14382
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
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DP
type: SiteQuality
SIO_000300: 1.193533e6

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQRankSum
type: SiteQuality
SIO_000300: 1.7e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

MQ
type: SiteQuality
SIO_000300: 5.929e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.498e0

VQSLOD
type: SiteQuality
SIO_000300: -2.101e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.115e0

QD
type: SiteQuality
SIO_000300: 1.172e1

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5104
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 58516
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8000
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Other
type: Population
allele count: 0
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allele num: 758
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South Asian
type: Population
allele count: 1
allele frequency: 6.760411032990806e-5
allele num: 14792
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DP
type: SiteQuality
SIO_000300: 1.23852e6

FS
type: SiteQuality
SIO_000300: 1.354e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.736e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.6e-3

ClippingRankSum
type: SiteQuality
SIO_000300: -3.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.9e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.16e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 4.7e0

VQSLOD
type: SiteQuality
SIO_000300: -1.772e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8000
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7822
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10470
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 762
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5180
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-3

FS
type: SiteQuality
SIO_000300: 2.199e0

MQ
type: SiteQuality
SIO_000300: 5.901e1

QD
type: SiteQuality
SIO_000300: 1.98e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.25e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.45e0

MQRankSum
type: SiteQuality
SIO_000300: -5.0e-2

DP
type: SiteQuality
SIO_000300: 1.243398e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.15e0

VQSLOD
type: SiteQuality
SIO_000300: -3.774e0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.701722142808522e-5
allele num: 58764
num of homozygotes: 0

South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 14848
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8010
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5198
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10484
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
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BaseQRankSum
type: SiteQuality
SIO_000300: 2.8e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 3.277e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.39e-1

DP
type: SiteQuality
SIO_000300: 1.242843e6

VQSLOD
type: SiteQuality
SIO_000300: 7.41e-1

MQRankSum
type: SiteQuality
SIO_000300: -6.7e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 7.62e-1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5200
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14824
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7834
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.702765290832312e-5
allele num: 58728
num of homozygotes: 0

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

Other
type: Population
allele count: 0
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allele num: 760
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InbreedingCoeff
type: SiteQuality
SIO_000300: -3.6e-3

MQRankSum
type: SiteQuality
SIO_000300: -3.15e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.14e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.701e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.41e-1

QD
type: SiteQuality
SIO_000300: 5.0e0

FS
type: SiteQuality
SIO_000300: 2.379e0

VQSLOD
type: SiteQuality
SIO_000300: -1.876e0

DP
type: SiteQuality
SIO_000300: 1.244801e6

European (Non-Finnish)
type: Population
allele count: 13
allele frequency: 2.235443821577192e-4
allele num: 58154
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10472
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 746
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14782
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -2.27e0

QD
type: SiteQuality
SIO_000300: 9.19e0

DP
type: SiteQuality
SIO_000300: 1.225607e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.8e-3

MQ
type: SiteQuality
SIO_000300: 5.96e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.4e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e-1

FS
type: SiteQuality
SIO_000300: 1.118e0

MQRankSum
type: SiteQuality
SIO_000300: -2.4e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.5e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12410
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 7.115074471112798e-5
allele num: 42164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3228
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 544
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5804
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7374
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.08e-1

DP
type: SiteQuality
SIO_000300: 8.39284e5

ClippingRankSum
type: SiteQuality
SIO_000300: -1.08e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 7.14e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.62e-1

FS
type: SiteQuality
SIO_000300: 6.826e0

MQRankSum
type: SiteQuality
SIO_000300: 2.96e-1

QD
type: SiteQuality
SIO_000300: 1.174e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.11e-2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7110
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4974
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5618
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.464875523786049e-5
allele num: 40570
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3080
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BaseQRankSum
type: SiteQuality
SIO_000300: -1.236e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.18e-1

DP
type: SiteQuality
SIO_000300: 8.06544e5

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.65e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 8.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.53e-1

QD
type: SiteQuality
SIO_000300: 1.572e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 40508
num of homozygotes: 0

Latino
type: Population
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allele frequency: 0.0e0
allele num: 7082
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South Asian
type: Population
allele count: 1
allele frequency: 8.229098090849243e-5
allele num: 12152
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4976
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
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East Asian
type: Population
allele count: 0
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BaseQRankSum
type: SiteQuality
SIO_000300: -5.36e-1

QD
type: SiteQuality
SIO_000300: 1.031e1

MQRankSum
type: SiteQuality
SIO_000300: -3.71e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.42e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.666e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

DP
type: SiteQuality
SIO_000300: 8.0544e5

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7082
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5608
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3048
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African
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allele count: 0
allele frequency: 0.0e0
allele num: 4976
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.468648168263059e-5
allele num: 40508
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 530
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QD
type: SiteQuality
SIO_000300: 1.031e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.27e-2

MQRankSum
type: SiteQuality
SIO_000300: -3.71e-1

DP
type: SiteQuality
SIO_000300: 8.0544e5

VQSLOD
type: SiteQuality
SIO_000300: 5.42e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.77e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -5.36e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 1.666e0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.42e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 38782
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4762
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2886
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 506
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.679543164259321e-4
allele num: 11908
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5440
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BaseQRankSum
type: SiteQuality
SIO_000300: -2.04e0

QD
type: SiteQuality
SIO_000300: 1.176e1

VQSLOD
type: SiteQuality
SIO_000300: 8.77e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.36e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.31e-2

FS
type: SiteQuality
SIO_000300: 4.425e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.58e-1

DP
type: SiteQuality
SIO_000300: 7.74399e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.33e0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 4518
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 2.744689026733271e-5
allele num: 36434
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South Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 11568
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2786
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
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allele num: 490
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ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.003e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.53e-2

VQSLOD
type: SiteQuality
SIO_000300: 3.86e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.099e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

DP
type: SiteQuality
SIO_000300: 7.27792e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.1e0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 246
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2042
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European (Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 1028
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East Asian
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South Asian
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allele count: 3
allele frequency: 3.338526596928556e-4
allele num: 8986
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15584
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ReadPosRankSum
type: SiteQuality
SIO_000300: 4.06e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.06e-1

QD
type: SiteQuality
SIO_000300: 7.88e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.73e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -1.532e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

DP
type: SiteQuality
SIO_000300: 4.5344e5

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 712
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.564945226917058e-3
allele num: 1278
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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African
type: Population
allele count: 0
allele frequency: 0.0e0
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8442
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11590
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MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.514e1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 4.0989e5

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.52e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.87e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.39e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.43e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.63e0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 688
num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
allele num: 1094
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South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7968
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European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.254390366281987e-4
allele num: 7972
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 446
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 952
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MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -6.33e-2

VQSLOD
type: SiteQuality
SIO_000300: -9.923999999999999e-1

MQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.82e-1

DP
type: SiteQuality
SIO_000300: 3.63317e5

ClippingRankSum
type: SiteQuality
SIO_000300: 1.27e0

FS
type: SiteQuality
SIO_000300: 4.191e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.82e-1

QD
type: SiteQuality
SIO_000300: 2.807e1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5724
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
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South Asian
type: Population
allele count: 1
allele frequency: 1.319609395618897e-4
allele num: 7578
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 654
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.950000000000001e-2

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 3.22949e5

QD
type: SiteQuality
SIO_000300: 1.166e1

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

BaseQRankSum
type: SiteQuality
SIO_000300: -9.51e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.73e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.6e-2

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 674
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 232
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 422
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 5674
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South Asian
type: Population
allele count: 1
allele frequency: 1.318565400843882e-4
allele num: 7584
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QD
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VQSLOD
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MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -6.900000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

FS
type: SiteQuality
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BaseQRankSum
type: SiteQuality
SIO_000300: 5.8e-1

DP
type: SiteQuality
SIO_000300: 3.22114e5

ClippingRankSum
type: SiteQuality
SIO_000300: 3.58e-1

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 4714
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 534
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 144
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 610
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 160
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South Asian
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allele frequency: 1.347708894878706e-4
allele num: 7420
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BaseQRankSum
type: SiteQuality
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MQ
type: SiteQuality
SIO_000300: 5.751e1

DP
type: SiteQuality
SIO_000300: 2.98543e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.05e-1

FS
type: SiteQuality
SIO_000300: 3.093e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.8e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.722e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.32e-2

QD
type: SiteQuality
SIO_000300: 1.546e1

South Asian
type: Population
allele count: 3
allele frequency: 4.144791378833932e-4
allele num: 7238
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 3540
num of homozygotes: 0

Latino
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allele count: 0
allele frequency: 0.0e0
allele num: 202
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Other
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allele count: 0
allele frequency: 0.0e0
allele num: 134
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 88
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 334
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DP
type: SiteQuality
SIO_000300: 2.63957e5

QD
type: SiteQuality
SIO_000300: 9.960000000000001e0

FS
type: SiteQuality
SIO_000300: 6.33e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.78e-1

MQRankSum
type: SiteQuality
SIO_000300: 6.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.770000000000001e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.07e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.744e0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 306
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele count: 0
allele frequency: 0.0e0
allele num: 3022
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European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 56
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Other
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allele num: 122
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 242
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.33e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.070000000000001e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.27e-1

MQRankSum
type: SiteQuality
SIO_000300: 7.27e-1

DP
type: SiteQuality
SIO_000300: 2.36806e5

ClippingRankSum
type: SiteQuality
SIO_000300: 7.27e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 6.726e0

VQSLOD
type: SiteQuality
SIO_000300: -1.683e0

QD
type: SiteQuality
SIO_000300: 1.67e0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
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Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
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East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 198
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European (Finnish)
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
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European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2776
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FS
type: SiteQuality
SIO_000300: 9.79e-1

MQRankSum
type: SiteQuality
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VQSLOD
type: SiteQuality
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QD
type: SiteQuality
SIO_000300: 1.22e1

ClippingRankSum
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
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InbreedingCoeff
type: SiteQuality
SIO_000300: -8.43e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.29e-1

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
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European (Finnish)
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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: 122
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European (Non-Finnish)
type: Population
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allele frequency: 7.535795026375283e-4
allele num: 2654
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African
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South Asian
type: Population
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allele num: 7084
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ReadPosRankSum
type: SiteQuality
SIO_000300: 7.27e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.95e-1

DP
type: SiteQuality
SIO_000300: 2.25283e5

BaseQRankSum
type: SiteQuality
SIO_000300: 3.58e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.53e-2

QD
type: SiteQuality
SIO_000300: 1.461e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
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East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 162
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African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.410437235543018e-4
allele num: 7090
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.38e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.33e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.437e0

DP
type: SiteQuality
SIO_000300: 2.26761e5

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.13e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.799999999999999e-2

QD
type: SiteQuality
SIO_000300: 1.534e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.036e0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 164
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 116
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 7080
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 120
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2634
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.07e-1

QD
type: SiteQuality
SIO_000300: 1.068e1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQRankSum
type: SiteQuality
SIO_000300: 7.42e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.31748e5

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.03e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.71e-2

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 122
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 2666
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 214
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 1.407261469180974e-4
allele num: 7106
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 118
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 170
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.48e-2

VQSLOD
type: SiteQuality
SIO_000300: -1.466e0

FS
type: SiteQuality
SIO_000300: 2.452e0

QD
type: SiteQuality
SIO_000300: 1.6e1

MQRankSum
type: SiteQuality
SIO_000300: -4.7e-2

MQ
type: SiteQuality
SIO_000300: 5.871e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.21e-1

DP
type: SiteQuality
SIO_000300: 2.38234e5

BaseQRankSum
type: SiteQuality
SIO_000300: -8.9e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 9.83e-1